1,050 results match your criteria Waardenburg Syndrome


Phenotypic analysis of Myo10 knockout (Myo10) mice lacking full-length (motorized) but not brain-specific headless myosin X.

Sci Rep 2019 Jan 24;9(1):597. Epub 2019 Jan 24.

Institut für Molekulare Zellbiologie, Westfälische Wilhelms-Universität Münster, 48149, Münster, Germany.

We investigated the physiological functions of Myo10 (myosin X) using Myo10 reporter knockout (Myo10) mice. Full-length (motorized) Myo10 protein was deleted, but the brain-specific headless (Hdl) isoform (Hdl-Myo10) was still expressed in homozygous mutants. In vitro, we confirmed that Hdl-Myo10 does not induce filopodia, but it strongly localized to the plasma membrane independent of the MyTH4-FERM domain. Read More

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http://dx.doi.org/10.1038/s41598-018-37160-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345916PMC
January 2019
1 Read

Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness.

Anim Genet 2019 Jan 15. Epub 2019 Jan 15.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.

White spotting phenotypes in horses are highly valued in some breeds. They are quite variable and may range from the common white markings up to completely white horses. EDNRB, KIT, MITF, PAX3 and TRPM1 represent known candidate genes for white spotting phenotypes in horses. Read More

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http://dx.doi.org/10.1111/age.12762DOI Listing
January 2019
1 Read

The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report.

J Med Case Rep 2019 Jan 13;13(1):10. Epub 2019 Jan 13.

Sickle Cell Unit, Caribbean Institute for Health Research, The University of the West Indies, Kingston 7, Jamaica.

Background: It is important that multiple genetic diagnoses are not missed. This case report describes the clinical features and management of a patient with co-inheritance of Waardenburg syndrome type 4 or Waardenburg-Shah syndrome, an extremely rare disease, and homozygous sickle cell disease not uncommon in the Caribbean. This case is unusual as it may be the first documented case of the co-inheritance of both these diseases. Read More

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http://dx.doi.org/10.1186/s13256-018-1953-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330566PMC
January 2019
4 Reads

Degeneration of saccular hair cells caused by MITF gene mutation.

Neural Dev 2019 01 11;14(1). Epub 2019 Jan 11.

Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Key Laboratory of Hearing Impairment Science, Chinese PLA Medical School, Beijng, China.

Background: Waardenburg syndrome (WS) is the consequence of an inherited autosomal dominant mutation which causes the early degeneration of intermediate cells of cochlear stria vascularis (SV) and profound hearing loss. Patients with WS may also experience primary vestibular symptoms. Most of the current WS studies did not discuss the relationship between WS and abnormal vestibular function. Read More

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https://neuraldevelopment.biomedcentral.com/articles/10.1186
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http://dx.doi.org/10.1186/s13064-019-0126-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330439PMC
January 2019
4 Reads

A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II.

Mol Med Rep 2019 Mar 3;19(3):1775-1780. Epub 2019 Jan 3.

Department of Otolaryngology, First Hospital of Kunming Medical University, Kunming, Yunnan 650032, P.R. China.

Waardenburg syndrome type 2 (WS2) is a rare genetic disorder, characterized by bright blue eyes, moderate to profound hearing loss and pigmental abnormalities of the hair and skin. Between 10 and 20 mutations in the SRY‑box 10 (SOX10) gene were previously identified to be associated with WS2. The present study aimed to identify the genetic causes of WS2 in a Chinese family. Read More

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http://www.spandidos-publications.com/10.3892/mmr.2019.9815
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http://dx.doi.org/10.3892/mmr.2019.9815DOI Listing
March 2019
5 Reads

When color matters: Waardenburg syndrome.

Indian J Ophthalmol 2019 Jan;67(1):135

KannuriSanthama Centre for Vitreoretinal Diseases, L V Prasad Eye Institute, Hyderabad-34, India.

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http://dx.doi.org/10.4103/ijo.IJO_889_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324112PMC
January 2019

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome.

Pediatr Dermatol 2019 Jan 18;36(1):72-84. Epub 2018 Dec 18.

University of Florida College of Medicine, Gainesville, Florida.

Melanocyte development is orchestrated by a complex interconnecting regulatory network of genes and synergistic interactions. Piebaldism and Waardenburg syndrome are neurocristopathies that arise from mutations in genes involved in this complex network. Our understanding of melanocyte development, Piebaldism, and Waardenburg syndrome has improved dramatically over the past decade. Read More

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http://dx.doi.org/10.1111/pde.13713DOI Listing
January 2019

Case of Waardenburg Shah syndrome in a family with review of literature.

J Otol 2018 Sep 8;13(3):105-110. Epub 2018 Jun 8.

Department of Otolaryngology and Head and Neck Surgery, Mahatma Gandhi Memorial Hospital Warangal, Flat no 46, Bhagya Nagar Apartments, RTC Cross Roads, Hyderabad, 500020, Telangana, India.

Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S16722930183000
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http://dx.doi.org/10.1016/j.joto.2018.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291636PMC
September 2018
3 Reads

[Waardenburg syndrome type 1].

J Fr Ophtalmol 2019 Jan 13;42(1):94-95. Epub 2018 Dec 13.

Service d'ophtalmologie A, CHU Ibn Sina, Souissi, Rabat, Maroc.

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https://linkinghub.elsevier.com/retrieve/pii/S01815512183042
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http://dx.doi.org/10.1016/j.jfo.2018.03.028DOI Listing
January 2019
9 Reads

A homozygous MITF mutation leads to familial Waardenburg syndrome type 4.

Am J Med Genet A 2019 Feb 14;179(2):243-248. Epub 2018 Dec 14.

Department of Otolaryngology - Head and Neck Surgery, The Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Waardenburg syndrome (WS) is a genetic disorder characterized by hearing loss and pigmentary abnormalities with variable penetrance. Though heterozygous mutations in MITF are a major cause for Waardenburg syndrome type 2 (WS2), homozygous mutations in this gene and the associated phenotype have been rarely characterized. In this study, we identified a novel p. Read More

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http://dx.doi.org/10.1002/ajmg.a.60693DOI Listing
February 2019
14 Reads

Waardenburg Syndrome and Left Persistent Superior Vena Cava.

J Clin Imaging Sci 2018 15;8:44. Epub 2018 Nov 15.

Department of Radiology, University of Kentucky, Kentucky, USA.

Waardenburg syndrome (WS) is a rare genetic disorder secondary to neural crest cell developmental abnormalities. It is predominantly described as an auditory-pigmentary syndrome with diverse patient presentation, typically involving congenital sensorineural hearing loss and pigmentation abnormalities of the skin, hair, and iris. Other developmental abnormalities that may be associated with this syndrome are Hirschsprung's disease and a myriad of cardiovascular congenital defects. Read More

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http://www.clinicalimagingscience.org/text.asp?2018/8/1/44/2
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http://dx.doi.org/10.4103/jcis.JCIS_31_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251238PMC
November 2018
5 Reads

Waardenburg syndrome type 2.

Med J Armed Forces India 2018 Oct 17;74(4):380-382. Epub 2017 Jul 17.

Senior Advisor & Head (Ophthalmology), Command Hospital (Eastern Command), Kolkata 700027, India.

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http://dx.doi.org/10.1016/j.mjafi.2017.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224656PMC
October 2018
1 Read

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.

Eur J Med Genet 2018 Nov 13. Epub 2018 Nov 13.

University of Torino, Department of Medical Sciences, 10126, Torino, Italy.

Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused by biallelic pathogenic variants in the SMOC1 gene. It is characterized by ocular disorders (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), variably associated with long bone hypoplasia, horseshoe kidney, venous anomalies, vertebral anomalies, developmental delay, and intellectual disability. Here, we report the case of a woman who interrupted her pregnancy after ultrasound scans revealed a depression of the frontal bone, posterior fossa anomalies, cerebral ventricular enlargement, cleft spine involving the sacral and lower-lumbar vertebrae, and bilateral microphthalmia. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183039
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http://dx.doi.org/10.1016/j.ejmg.2018.11.012DOI Listing
November 2018
11 Reads

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Clin Genet 2018 Nov 5. Epub 2018 Nov 5.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Waardenburg syndrome (WS) is a disorder of neural crest cell migration characterized by auditory and pigmentary abnormalities. We investigated a cohort of 14 families (16 subjects) either by targeted sequencing or whole-exome sequencing. Thirteen of these families were clinically diagnosed with WS and one family with isolated non-syndromic hearing loss (NSHL). Read More

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http://doi.wiley.com/10.1111/cge.13468
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http://dx.doi.org/10.1111/cge.13468DOI Listing
November 2018
12 Reads
3.931 Impact Factor

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing.

Hear Res 2018 Dec 16;370:181-188. Epub 2018 Oct 16.

Departamento de Genética e Morfologia, Universidade de Brasília, Brasília, Brazil; Programa de Pós-graduação em Biologia Animal, Universidade de Brasília, Brasília, Brazil. Electronic address:

Syndromic hearing loss accounts for approximately 30% of all cases of hearing loss due to genetic causes. Mutation screening in known genes is important because it potentially sheds light on the genetic etiology of hearing loss and helps in genetic counseling of families. In this study, we describe a customized Ion AmpliSeq Panel, specifically designed for the investigation of syndromic hearing loss. Read More

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http://dx.doi.org/10.1016/j.heares.2018.10.008DOI Listing
December 2018
1 Read

Waardenburg syndrome: when the eyes speak the truth.

Postgrad Med J 2018 Oct 29. Epub 2018 Oct 29.

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

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http://dx.doi.org/10.1136/postgradmedj-2018-136127DOI Listing
October 2018
1.550 Impact Factor

A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan.

Cureus 2018 Aug 14;10(8):e3143. Epub 2018 Aug 14.

Internal Medicine, Rawalpindi Medical University, Rawalpindi, PAK.

Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an autosomal dominant disease with four subtypes, each presenting with varying degrees of sensorineural hearing loss along with a constellation of other symptoms. Read More

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https://www.cureus.com/articles/13045-a-case-of-waardenburg-
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http://dx.doi.org/10.7759/cureus.3143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188159PMC
August 2018
8 Reads

A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.

BMC Ophthalmol 2018 Oct 11;18(1):266. Epub 2018 Oct 11.

Department of Ophthalmology, The Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, 211, Eonjuro, Gangnam-gu, Seoul, 06273, Korea.

Background: Waardenburg syndrome (WS) is a very rare genetic disorder affecting the neural crest cells. Coexistence of branch retinal vein occlusion (BRVO) and branch retinal artery occlusion (BRAO) in the same eye is also a rare finding. Here we report a case of WS type 1 that was confirmed by a novel mutation with the finding of unilateral BRVO and BRAO. Read More

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https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12
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http://dx.doi.org/10.1186/s12886-018-0933-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186106PMC
October 2018
8 Reads

A Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients.

Int J Mol Cell Med 2018 27;7(1):17-23. Epub 2018 Mar 27.

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Waardenburg syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance, and considerable clinical and genetic heterogeneity. WS type II is the most common type of WS in many populations presenting with sensorineural hearing impairment, heterochromia iridis, hypoplastic blue eye, and pigmentary abnormalities of the hair and skin. To date, mutations of , , and have been implicated in the pathogenesis of WS2. Read More

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http://ijmcmed.org/article-1-798-en.html
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http://dx.doi.org/10.22088/IJMCM.BUMS.7.1.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134422PMC
March 2018
1 Read

First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene.

Int J Pediatr Otorhinolaryngol 2018 Oct 10;113:229-233. Epub 2018 Aug 10.

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

Objectives: Waardenburg Syndrome (WS) as a congenital auditory-pigmentary syndrome is a clinically and genetically heterogeneous disorder. Based upon clinical manifestations, it can be classified into four types. Loss of function mutations in PAX3 gene cause WS1 and WS3 (Klein-Waardenburg syndrome). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01655876183038
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http://dx.doi.org/10.1016/j.ijporl.2018.08.009DOI Listing
October 2018
15 Reads

A recalcitrant case of Jacquet erosive diaper dermatitis after surgery for Hirschsprung disease in a boy with Waardenburg-Shah syndrome.

Dermatol Online J 2018 Jun 15;24(6). Epub 2018 Jun 15.

Department of Dermatology and Venereology, Istanbul Faculty of Medicine, Istanbul University, Istanbul.

We herein present a 4 year-old boy with Waardenburg-Shah syndrome who developed Jacquet erosive diaper dermatitis following a total colectomy and ileoanal anastomosis procedure for Hirschsprung disease. The diagnosis was made according to history and typical clinical findings. Complete resolution of the recalcitrant lesions after an ileostomy procedure supported the diagnosis. Read More

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June 2018
3 Reads

Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A.

Pigment Cell Melanoma Res 2019 Jan 6;32(1):85-91. Epub 2018 Sep 6.

Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1111/pcmr.12733DOI Listing
January 2019
1 Read

Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.

Am J Med Genet A 2018 Sep 16;176(9):1968-1971. Epub 2018 Aug 16.

Greenwood Genetic Center, Greenwood, South Carolina.

Random mating in the general population tends to limit the occurrence of homozygous and compound heterozygous forms of dominant hereditary disorders. Certain phenotypes, the most recognized being skeletal dysplasias associated with short stature, lead to cultural interaction and assortative mating. To this well-known example, may be added deafness which brings together individuals with a variety of deafness genotypes, some being dominant. Read More

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http://dx.doi.org/10.1002/ajmg.a.40362DOI Listing
September 2018
1 Read

Waardenburg syndrome with isolated deficiency of myenteric ganglion cells at the sigmoid colon and rectum.

Pediatr Rep 2018 May 24;10(2):7500. Epub 2018 May 24.

First Department of Surgery.

Waardenburg syndrome (WS) has the characteristic clinical features caused by the embryologic abnormality of neural crest cells. WS patients sometimes suffer from functional intestinal obstruction. When it is Hirschsprung disease (HD), the WS is diagnosed as type 4 WS. Read More

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http://dx.doi.org/10.4081/pr.2018.7500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050473PMC
May 2018
3 Reads

SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FINDINGS IN WAARDENBURG SYNDROME.

Retin Cases Brief Rep 2018 Jul 16. Epub 2018 Jul 16.

Vitreous Retina Macula Specialists of Toronto, Etobicoke, Ontario, Canada.

Purpose: Waardenburg syndrome (WS) is a rare condition characterized by six main features. It has been previously observed that WS is also associated with hypopigmentation of the choroid through multimodal imaging. To our knowledge, this is the first report of using swept-source optical coherence tomography angiography (OCTA) on a patient with known WS. Read More

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http://dx.doi.org/10.1097/ICB.0000000000000783DOI Listing
July 2018
1 Read

A rare case of seven siblings with Waardenburg syndrome: a case report.

J Med Case Rep 2018 Jul 5;12(1):192. Epub 2018 Jul 5.

ENT Department, Aleppo University Hospital, Aleppo, Syria.

Background: Waardenburg syndrome is a group of rare genetic conditions. It is determined by the absence of melanocytes from the eyes, hair, and skin. There are four types of Waardenburg syndrome with specific criteria to diagnosis the different types. Read More

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https://jmedicalcasereports.biomedcentral.com/articles/10.11
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http://dx.doi.org/10.1186/s13256-018-1704-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032534PMC
July 2018
16 Reads

Rare Association of Waardenburg Syndrome with Minimal Change Disease.

Indian J Nephrol 2018 May-Jun;28(3):226-228

Department of Nephrology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.

Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of hearing loss, pigmentary anomalies, and defects of other neural crest cell-derived structures. The association of WS with renal anomalies has been described in the literature. However, nephrotic syndrome is a very rare association with WS, and only one case has been reported in the literature. Read More

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http://dx.doi.org/10.4103/ijn.IJN_55_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998718PMC
July 2018
9 Reads

Subcellular localization and stability of MITF are modulated by the bHLH-Zip domain.

Pigment Cell Melanoma Res 2019 Jan 20;32(1):41-54. Epub 2018 Jul 20.

Faculty of Medicine, Department of Biochemistry and Molecular Biology, BioMedical Center, University of Iceland, Reykjavik, Iceland.

Microphthalmia-associated transcription factor (MITF) is a member of the basic helix-loop-helix leucine zipper (bHLH-Zip) family and functions as the master regulator of the melanocytic lineage. MITF-M is the predominant isoform expressed in melanocytes and melanoma cells, and, unlike other MITF isoforms, it is constitutively nuclear. Mutational analysis revealed three karyophilic signals in the bHLH-Zip domain of MITF-M, spanning residues 197-206, 214-217, and 255-265. Read More

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http://dx.doi.org/10.1111/pcmr.12721DOI Listing
January 2019
13 Reads

Waardenburg syndrome: A rare case.

Oman J Ophthalmol 2018 May-Aug;11(2):158-160

Department of Public Health Dentistry, VSPM Dental College and Hospital, Nagpur, Maharashtra, India.

Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. Read More

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http://dx.doi.org/10.4103/ojo.OJO_51_2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991067PMC

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.

Otol Neurotol 2018 Jul;39(6):732-738

Centre of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem.

Objectives: The purpose of this study is to report the results of a comprehensive etiological work-up for congenitally deaf children including targeted next generation sequencing.

Study Design: Retrospective case review.

Setting: Tertiary referral center. Read More

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http://dx.doi.org/10.1097/MAO.0000000000001847DOI Listing
July 2018
10 Reads

A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.

BMC Pediatr 2018 05 23;18(1):171. Epub 2018 May 23.

Department of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan.

Background: Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2.

Case Presentation: This report describes a patient with WS1 who harbored a novel SOX10 nonsense mutation (c. Read More

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https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887
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http://dx.doi.org/10.1186/s12887-018-1139-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966879PMC
May 2018
2 Reads

The expression and function of PAX3 in development and disease.

Gene 2018 Aug 4;666:145-157. Epub 2018 May 4.

Laboratory of Pathology, National Cancer Institute, Bethesda, MD, USA. Electronic address:

The PAX3 gene encodes a member of the PAX family of transcription factors that is characterized by a highly conserved paired box motif. The PAX3 protein is a transcription factor consisting of an N-terminal DNA binding domain (containing a paired box and homeodomain) and a C-terminal transcriptional activation domain. This protein is expressed during development of skeletal muscle, central nervous system and neural crest derivatives, and regulates expression of target genes that impact on proliferation, survival, differentiation and motility in these lineages. Read More

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http://dx.doi.org/10.1016/j.gene.2018.04.087DOI Listing
August 2018
2 Reads

Cochlear morphology in the developing inner ear of the porcine model of spontaneous deafness.

BMC Neurosci 2018 05 2;19(1):28. Epub 2018 May 2.

Department of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Key Laboratory of Hearing Impairment Science, Chinese PLA Medical School,Ministry of Education, Beijng, China.

Background: Auditory function and cochlear morphology have previously been described in a porcine model with spontaneous WS2-like phenotype. In the present study, cochlear histopathology was further investigated in the inner ear of the developing spontaneous deafness pig.

Results: We found that the stria vascularis transformed into a complex tri-laminar tissue at embryonic 85 days (E85) in normal pigs, but not in the MITF pigs. Read More

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http://dx.doi.org/10.1186/s12868-018-0426-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930852PMC
May 2018
6 Reads

A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.

Am J Med Genet A 2018 05;176(5):1195-1199

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

In this report, we present the case of a female infant with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) associated with a novel frameshift mutation (c.842dupT) in exon 5, the last exon of SOX10. She had severe hypoganglionosis in the small intestine and entire colon, and suffered from frequent enterocolitis. Read More

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http://dx.doi.org/10.1002/ajmg.a.38657DOI Listing
May 2018
7 Reads

De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism.

Ann Clin Lab Sci 2018 Mar;48(2):248-252

The Endocrinology Department of the Third Xiangya Hospital, Central South University, Changsha, Hunan Province, China

Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. Read More

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March 2018
37 Reads

Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome.

Dermatol Online J 2018 Feb 15;24(2). Epub 2018 Feb 15.

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas..

Waardenburg Syndrome (WS) is a condition characterized by pigmentary changes of the hair or skin, hearing loss, heterochromia iridis, and dystopia canthorum. There are four main types of WS, which can be commonly caused by mutations in the PAX3, MITF, EDNRB, EDN3, SNAI2, or SOX10 genes. Herein, we present a patient with Waardenburg Syndrome type 2 with no findings of mutations in the commonly associated genes. Read More

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February 2018
4 Reads

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.

J Hum Genet 2018 May 12;63(5):639-646. Epub 2018 Mar 12.

Department of Otorhinolaryngology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.

Mutation in the gene encoding microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome 2 (WS2), an autosomal dominantly inherited syndrome with auditory-pigmentary abnormalities, which is clinically and genetically heterogeneous. Haploinsufficiency may be the underlying mechanism for WS2. However, the mechanisms explaining the genotypic and phenotypic variations in WS2 caused by MITF mutations are unclear. Read More

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http://dx.doi.org/10.1038/s10038-018-0425-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915419PMC
May 2018
3 Reads

Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?

Pediatr Med Chir 2017 Dec 15;39(4):169. Epub 2017 Dec 15.

Department of Neurosciences, Ophthalmology, Rehabilitation, Genetics, and Mother-Child Sciences, University of Genoa, Genoa.

The Authors report on a patient with Kearns-Sayre syndrome, large mtDNA deletion (7/kb), facial abnormalities and severe central nervous system (CNS) white matter radiological features, commonly attributed to spongy alterations. The common origin from neural crest cell (NCC) of facial structures (cartilagineous, osseous, vascular and of the peripheral nervous system) and of peripheral glia and partially of the CNS white matter are underlined and the facial and glial abnormalities are attributed to the abnormal reproduction/migration of NCC. In this view, the CNS spongy alterations in KSS may be not only a dystrophic process (leukodystrophy) but also a dysplastic condition (leukodysplasia). Read More

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http://dx.doi.org/10.4081/pmc.2017.169DOI Listing
December 2017
16 Reads

Permanent Childhood Hearing Impairment: Aetiological Evaluation of Infants identified through the Irish Newborn Hearing Screening Programme.

Ir Med J 2017 Dec 18;110(10):651. Epub 2017 Dec 18.

Department of Paediatrics, Cork University Hospital, Cork, Ireland.

The Newborn Hearing Screening Programme (NHSP) was established in Cork University Maternity Hospital (CUMH) in April 2011. Between April 2011 and July 2014, 42 infants were identified with a Permanent Childhood Hearing Impairment (PCHI). Following this diagnosis, infants underwent a paediatric assessment according to recognised guidelines with the intention of identifying the underlying aetiology of the PCHI. Read More

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December 2017
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Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

J Pediatr Genet 2018 Mar 4;7(1):1-8. Epub 2018 Jan 4.

Department of Otolaryngology - Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, Indiana, United States.

Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF. Read More

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http://dx.doi.org/10.1055/s-0037-1617454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809162PMC
March 2018
2 Reads

[Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Feb;35(1):81-83

Center of Medical Genetics, Maternal and Child Health Care Hospital of Gansu Province, Lanzhou, Gansu 730050, China. Email:

OBJECTIVE To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. METHODS Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.01.018DOI Listing
February 2018
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Waardenburg syndrome: Novel mutations in a large Brazilian sample.

Eur J Med Genet 2018 Jun 31;61(6):348-354. Epub 2018 Jan 31.

Department of Genetics and Evolutionary Biology, Biosciences Institute, University of Sao Paulo (USP), Sao Paulo, SP, 05508-090, Brazil. Electronic address:

This paper deals with the molecular investigation of Waardenburg syndrome (WS) in a sample of 49 clinically diagnosed probands (most from southeastern Brazil), 24 of them having the type 1 (WS1) variant (10 familial and 14 isolated cases) and 25 being affected by the type 2 (WS2) variant (five familial and 20 isolated cases). Sequential Sanger sequencing of all coding exons of PAX3, MITF, EDN3, EDNRB, SOX10 and SNAI2 genes, followed by CNV detection by MLPA of PAX3, MITF and SOX10 genes in selected cases revealed many novel pathogenic variants. Molecular screening, performed in all patients, revealed 19 causative variants (19/49 = 38. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.01.012DOI Listing
June 2018
8 Reads

Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease.

Hum Mol Genet 2018 03;27(6):1078-1092

Institut für Biochemie, Emil-Fischer-Zentrum, Friedrich-Alexander Universität Erlangen-Nürnberg, D-91054 Erlangen, Germany.

Human SOX10 mutations lead to various diseases including Waardenburg syndrome, Hirschsprung disease, peripheral demyelinating neuropathy, central leukodystrophy, Kallmann syndrome and various combinations thereof. It has been postulated that PCWH as a combination of Waardenburg and Hirschsprung disease, peripheral neuropathy and central leukodystrophy is caused by heterozygous SOX10 mutations that result in the presence of a dominantly acting mutant SOX10 protein in the patient. One such protein with postulated dominant action is SOX10 Q377X. Read More

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http://dx.doi.org/10.1093/hmg/ddy029DOI Listing
March 2018
3 Reads

Bilateral Cochlear Implants: Maximizing Expected Outcomes.

J Dev Behav Pediatr 2018 Feb/Mar;39(2):177-179

Case: Sonia is a 4 years 1 month-year-old girl with Waardenburg syndrome and bilateral sensorineural hearing loss who had bilateral cochlear implants at 2 years 7 months years of age. She is referred to Developmental-Behavioral Pediatrics by her speech/language pathologist because of concerns that her language skills are not progressing as expected after the cochlear implant. At the time of the implant, she communicated using approximately 20 signs and 1 spoken word (mama). Read More

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http://dx.doi.org/10.1097/DBP.0000000000000547DOI Listing
January 2018
3 Reads

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

Int J Pediatr Otorhinolaryngol 2018 Jan 31;104:88-93. Epub 2017 Oct 31.

Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy; Neuroscience Department, University of Padova, Italy. Electronic address:

Objectives: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness.

Methods: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives. Read More

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http://dx.doi.org/10.1016/j.ijporl.2017.10.042DOI Listing
January 2018
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Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

Int J Pediatr Otorhinolaryngol 2018 Jan 16;104:200-204. Epub 2017 Nov 16.

Department of Otorhinolaryngology, Hainan General Hospital, Haikou 570311, China. Electronic address:

Objectives: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. Read More

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http://dx.doi.org/10.1016/j.ijporl.2017.11.011DOI Listing
January 2018
8 Reads

Shah-Waardenburg syndrome: a case highlighting the importance of a holistic approach to assessing a child.

BMJ Case Rep 2017 Dec 22;2017. Epub 2017 Dec 22.

Department of Paediatrics, Bapuji Child Health Institute and Research Centre, Davangere, India.

We present the case of a 45-day-old child with the chief complaint of failure to pass stools for 10 days. After initial investigation, the patient was found to have Hirschsprung's disease. However, with further examination and analysis, the extremely rare diagnosis of type 4 Waardenburg syndrome was made (also known as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung's disease). Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2017-22231
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http://dx.doi.org/10.1136/bcr-2017-222313DOI Listing
December 2017
6 Reads

Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.

Int J Pediatr Otorhinolaryngol 2017 Dec 28;103:14-19. Epub 2017 Sep 28.

Université de Tunis El Manar, Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunis, Tunisia; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.

Waardenburg syndrome (WS) is an auditory-pigmentary disease characterized by a clinical and genetic variability. WS is classified into four types depending on the presence or absence of additional symptoms: WS1, WS2, WS3 and WS4. Type 1 and 3 are mostly caused by PAX3 mutations, while type 2 and type 4 are genetically heterogeneous. Read More

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http://dx.doi.org/10.1016/j.ijporl.2017.09.029DOI Listing
December 2017
7 Reads