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    Waardenburg Syndrome: An Unusual Indication of Cochlear Implantation Experienced in 11 Patients.
    J Int Adv Otol 2017 Apr 17. Epub 2017 Apr 17.
    Clinic of Otorhinolaryngology, İzmir Katip Çelebi University Atatürk Training and Research Hospital, İzmir, Turkey.
    Objective: The aim of this study was to present the surgical findings of children with Waardenburg syndrome (WS) and investigate speech development after cochlear implantation in this unique group of patients.

    Materials And Methods: A retrospective chart review of the patients diagnosed with WS and implanted between 1998 and 2015 was performed. Categories of auditory performance (CAP) test were used to assess the auditory skills of these patients. Read More

    SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.
    Int J Pediatr Otorhinolaryngol 2017 May 16;96:122-126. Epub 2017 Mar 16.
    Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
    Background: Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin. WS is clinically heterogeneous and can be subdivided into four major types (WS1-WS4) where WS4 or Shah-Waardenburg is diagnosed when WS2 is accompanied by Hirschsprung disease (HD). Mutations of SOX10, EDN3/EDNRB have been identified in association with WS4. Read More

    A new missense mutation in the paired domain of the mouse Pax3 gene.
    Exp Anim 2017 Apr 6. Epub 2017 Apr 6.
    Division of Experimental Animals, Graduate School of Medicine, Nagoya University.
    Mice with dominant white spotting occurred spontaneously in the C3.NSY-(D11Mit74-D11Mit229) strain. Linkage analysis indicated that the locus for white spotting was located in the vicinity of the Pax3 gene on chromosome 1. Read More

    Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.
    J Hum Genet 2017 Mar 30. Epub 2017 Mar 30.
    Department of Otolaryngology Head and Neck Surgery, Xiangya Hospital, Central South University, Hunan, People's Republic of China.
    Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural deafness and pigmentary abnormalities affecting the skin, hair and eye. The four subtypes of WS were defined on the basis of the presence or absence of additional symptoms. Mutation of human microphthalmia-associated transcription factor (MITF) gene gives rise to WS2. Read More

    Toward a better understanding of enteric gliogenesis.
    Neurogenesis (Austin) 2017 2;4(1):e1293958. Epub 2017 Mar 2.
    Molecular Genetics of Development Laboratory, Department of Biological Sciences and BioMed Research Center, Faculty of Sciences, University of Quebec at Montreal , Montreal, Quebec, Canada.
    Most of gastrointestinal functions are controlled by the enteric nervous system (ENS), which contains a vast diversity of neurons and glial cells. In accordance with its key role, defective ENS formation is the cause of several diseases that affect quality of life and can even be life-threatening. Treatment of these diseases would greatly benefit from a better understanding of the molecular mechanisms underlying ENS formation. Read More

    22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.
    Am J Med Genet A 2017 Apr;173(4):1066-1070
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
    Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149-151], of an individual with 22q duplication and sex-reversal syndrome. Read More

    A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics.
    Pediatr Dev Pathol 2017 Jan-Feb;20(1):28-37
    2 Department of Genetics, Reproduction and Fetal Medicine, University Hospital Virgen del Rocío, Seville, Spain.
    Objectives Hirschsprung disease (HSCR) has a wide range of severity. There are nonsevere forms treated conservatively until surgery and severe forms that require an early stoma and prolonged hospitalization. Our objective was to establish a clinical scoring system to predict the severity of HSCR and to evaluate the possible existence of a clinical-genetic correlation. Read More

    Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
    Hear Res 2017 May 3;348:87-97. Epub 2017 Mar 3.
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan; Department of Hearing Implant Sciences, Shinshu University School of Medicine 3-1-1 Asahi, Matsumoto 390-8621, Japan. Electronic address:
    Cochlear implantation (CI), which directly stimulates the cochlear nerves, is the most effective and widely used medical intervention for patients with severe to profound sensorineural hearing loss. The etiology of the hearing loss is speculated to have a major influence of CI outcomes, particularly in cases resulting from mutations in genes preferentially expressed in the spiral ganglion region. To elucidate precise gene expression levels in each part of the cochlea, we performed laser-capture micro dissection in combination with next-generation sequencing analysis and determined the expression levels of all known deafness-associated genes in the organ of Corti, spiral ganglion, lateral wall, and spiral limbs. Read More

    The master role of microphthalmia-associated transcription factor in melanocyte and melanoma biology.
    Lab Invest 2017 Mar 6. Epub 2017 Mar 6.
    Cutaneous Biology Research Center, Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
    Certain transcription factors have vital roles in lineage development, including specification of cell types and control of differentiation. Microphthalmia-associated transcription factor (MITF) is a key transcription factor for melanocyte development and differentiation. MITF regulates expression of numerous pigmentation genes to promote melanocyte differentiation, as well as fundamental genes for maintaining cell homeostasis, including genes encoding proteins involved in apoptosis (eg, BCL2) and the cell cycle (eg, CDK2). Read More

    EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
    Hum Mutat 2017 May 15;38(5):581-593. Epub 2017 Mar 15.
    INSERM U955, IMRB, Equipe 6, Créteil, France.
    Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. Read More

    A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.
    Sci Rep 2017 Jan 27;7:41513. Epub 2017 Jan 27.
    Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
    Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A-C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling. Read More

    A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.
    Ophthalmic Genet 2017 Jan 13:1-5. Epub 2017 Jan 13.
    a Department of Biochemistry, Faculty of Biological Sciences , Quaid-i-Azam University , Islamabad , Pakistan.
    Background: Waardenburg anophthalmia syndrome (WAS), also known as ophthalmo-acromelic syndrome or anophthalmia-syndactyly, is a rare congenital disorder that segregates in an autosomal recessive pattern. Clinical features of the syndrome include malformation of the eyes and the skeleton. Mostly, WAS is caused by mutations in the SMOC-1 gene. Read More

    A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects.
    Gene 2017 Apr 30;607:16-22. Epub 2016 Dec 30.
    Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, Wako, Saitama, Japan.
    Background: Genes responsible for reduced pigmentation phenotypes in rodents are associated with human developmental defects, such as Waardenburg syndrome, where patients display congenital deafness along with various abnormalities mostly related to neural crest development deficiency.

    Objective: In this study, we identified a spontaneous mutant mouse line Rwa, which displays variable white spots on mouse bellies and white digits and tail, on a C57BL/6N genetic background. Curly tail and spina bifida were also observed, although at a lower penetrance. Read More

    [PAX3 gene mutation analysis for two Waardenburg syndrome type Ⅰ families and their prenatal diagnosis].
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2016 Dec;51(12):896-901
    Department of Otology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
    Objective: To analyze the mutations of PAX3 gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus. Methods:PAX3 gene was first analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) for detecting pathogenic mutation of the probands of the two pedigrees. The mutations were confirmed by MLPA and Sanger in parents and unrelated healthy individuals. Read More

    A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease.
    Genet Mol Res 2016 Dec 2;15(4). Epub 2016 Dec 2.
    Department of Pediatrics, Qilu Children's Hospital of Shandong University, Jinan, Shandong, China
    Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease. Read More

    [SOX10 mutation is relevant to inner ear malformation in patients with Waardenburg syndrome].
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2016 Nov;51(11):832-837
    Department of Otorhinolaryngology Head and Neck Surgery, Chinese Peoples's Liberation Army General Hospital, 100853 Beijing, China.
    Objective: To determine the relevance between the SOX10 mutation and Waardenburg syndrome (WS) accompanied with inner ear abnormality by analyzing the inner ear imaging results and molecular and genetic results of the WS patients with the SOX10 mutation. Methods: This study included 36 WS in patients during 2001 and 2015 in the department of otorhinolaryngology head and neck surgery, Chinese Peoples's Liberation Army General Hospital. The condition of the inner ear of each patient was assessed by analyzing HRCT scans of the temporal bone and MRI scans of the brain and internal auditory canal. Read More

    How do we recognize the child with OSAS?
    Pediatr Pulmonol 2017 Feb 16;52(2):260-271. Epub 2016 Nov 16.
    Division of Pediatric Pulmonology, Marmara University, Istanbul, Turkey.
    Obstructive sleep-disordered breathing includes a spectrum of clinical entities with variable severity ranging from primary snoring to obstructive sleep apnea syndrome (OSAS). The clinical suspicion for OSAS is most often raised by parental report of specific symptoms and/or abnormalities identified by the physical examination which predispose to upper airway obstruction (e.g. Read More

    Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV.
    Int J Pediatr Otorhinolaryngol 2016 Dec 15;91:67-71. Epub 2016 Oct 15.
    China Rehabilitation and Research Center for Deaf Children, Beijing 100029, China. Electronic address:
    Objectives: Waardenburg syndrome is a rare genetic disorder, characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Four subtypes have been classified. The present study aimed to analyze the clinical feature and investigate the genetic cause for a Chinese case of Waardenburg type IV (WS4). Read More

    A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and its Correlation with Molecular Genetics.
    Pediatr Dev Pathol 2016 Jan 27. Epub 2016 Jan 27.
    7 University Hospital Virgen del Rocío. Dpt of Genetics, Reproduction and Fetal Medicine.
    Objectives: Hirschsprung disease (HSCR) has a wide range of severity. There are non-severe forms treated conservatively until surgery and severe forms that require an early stoma and prolonged hospitalization. Our objective was to establish a clinical scoring system to predict the severity of HSCR and to evaluate the possible existence of a clinical-genetic correlation. Read More

    Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.
    Sci Rep 2016 Oct 19;6:35498. Epub 2016 Oct 19.
    Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
    Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Read More

    Waardenburg-Shah Syndrome: a rare case in an Indian child.
    BMJ Case Rep 2016 Sep 30;2016. Epub 2016 Sep 30.
    All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
    A 7-year-old male child presented with a history of discolouration of right eye since birth. On examination visual acuity was 6/6 on Snellen's chart in both eyes; anterior segment was within normal limits except for the brilliant blue discolouration of the inferior quadrant and superior quadrant of right iris and left eye iris, respectively. Both eyes had a clear lens and fundus findings were within normal limits. Read More

    Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies.
    J Contemp Dent Pract 2016 Aug 1;17(8):702-5. Epub 2016 Aug 1.
    Department of Dentistry, Universidade do Sagrado Coração, São Paulo, Brazil.
    Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil. Read More

    Hirschsprung's disease associated with alopecia universalis congenita: a case report.
    J Med Case Rep 2016 Sep 15;10(1):250. Epub 2016 Sep 15.
    Department of Dermatology, T.N. Medical College & B.Y.L Nair Hospital, Mumbai, 400008, India.
    Background: Hirschsprung's disease is one of the commonest causes of intestinal obstruction in neonates because of gut motility disorder. It is characterized as a complex genetic heterogenous disorder with variable inheritance. Hirschsprung's disease occurs as an isolated phenotype in majority (70 %) of cases. Read More

    Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.
    Am J Med Genet A 2016 Dec 8;170(12):3294-3297. Epub 2016 Sep 8.
    Department of Genetics, Hospital "Dr. Luis Sánchez Bulnes", Asociación para Evitar la Ceguera en México, Mexico City, Mexico.
    Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations. Tietz syndrome is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de-pigmented skin, hair, and irides. In this paper, we report two unrelated families with MITF mutations. Read More

    Upregulation of the Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of Waardenburg syndrome type 4.
    Dis Model Mech 2016 Nov 1;9(11):1283-1293. Epub 2016 Sep 1.
    Molecular Genetics of Development Laboratory, Department of Biological Sciences and BioMed Research Center, University of Quebec at Montreal (UQAM), Montreal, H2X 3Y7, Canada
    Waardenburg syndrome is a neurocristopathy characterized by a combination of skin and hair depigmentation, and inner ear defects. In the type 4 form, these defects show comorbidity with Hirschsprung disease, a disorder marked by an absence of neural ganglia in the distal colon, triggering functional intestinal obstruction. Here, we report that the Spot mouse line - obtained through an insertional mutagenesis screen for genes involved in neural crest cell (NCC) development - is a model for Waardenburg syndrome type 4. Read More

    Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.
    Sci Rep 2016 Aug 26;6:31622. Epub 2016 Aug 26.
    John P. Hussman Institute for Human Genomics, University of Miami, Miami, 33136, FL, USA.
    The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4. Read More

    From single nucleotide substitutions up to chromosomal deletions: genetic pause of leucism-associated disorders in animals.
    Berl Munch Tierarztl Wochenschr 2016 Jul-Aug;129(7-8):269-81
    Leucism is characterized by a complete or partial white skin and hair in combination with pigmented irides, which can be vivid blue or heterochromatic. This is due to a complete or partial lack of melanocytes. The underlying pathogenesis is a disturbed emigration or differentiation of neural crest-derived cells. Read More

    Ophthalmic pathologies in female subjects with bilateralcongenital sensorineural hearing loss.
    Turk J Med Sci 2016 Jan 5;46(1):139-44. Epub 2016 Jan 5.
    Department of Ophthalmology, Gülhane Military Medical School, Ankara, Turkey.
    Background/aim: The high prevalence of ophthalmologic pathologies in hearing-disabled subjects necessitates early screening of other sensory deficits, especially visual function. The aim of this study is to determine the frequency and clinical characteristics of ophthalmic pathologies in patients with congenital bilateral sensorineural hearing loss (SNHL).

    Materials And Methods: This descriptive study is a prospective analysis of 78 young female SNHL subjects who were examined at a tertiary care university hospital with a detailed ophthalmic examination, including electroretinography (ERG) and visual field tests as needed. Read More

    Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.
    Am J Med Genet A 2016 Oct 2;170(10):2523-30. Epub 2016 Aug 2.
    Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    Hearing loss is a relatively common condition in children, occurring in approximately 2 out of every 1,000 births with approximately 50% of reported diagnoses having a primary genetic etiology. Given the prevalence and genetic component of hearing loss, coupled with a trend toward early diagnosis with the institution of universal newborn hearing screening, The Genetics of Hearing Loss Clinic was established at The Children's Hospital of Philadelphia to manage the diagnosis, testing, and genetic counseling for individuals and families. This paper described a cohort of 660 individuals with a diagnosis of hearing loss evaluated between July 2008 and July 2015 in the Genetics of Hearing Loss Clinic. Read More

    [Molecular pathogenesis of Waardenburg syndrome type II resulting from SOX10 gene mutation].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Aug;33(4):466-70
    Department of Otorhinolaryngology, First Affiliated Hospital, Xinjiang Medical University, Urumqi, Xinjiang 830011, China; Department of Otorhinolaryngology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China; Department of Otorhinolaryngology, Xiangya Hospital, South China University, Changsha, Hunan 410008, China. Email:
    Objective: To explore the molecular mechanism of Waardenburg syndrome type II (WS2) resulting from SOX10 gene mutation E248fs through in vitro experiment.

    Methods: 293T cells were transiently transfected with wild type (WT) SOX10 and mutant type (MT) E248fs plasmids. The regulatory effect of WT/MT SOX10 on the transcriptional activity of MITF gene and influence of E248fs on WT SOX10 function were determined with a luciferase activity assay. Read More

    The Hearing Outcomes of Cochlear Implantation in Waardenburg Syndrome.
    Biomed Res Int 2016 8;2016:2854736. Epub 2016 Jun 8.
    Department of Otolaryngology, Faculty of Medicine, University of Tokyo, Tokyo 113-8655, Japan.
    Objectives. This study aimed to determine the feasibility of cochlear implantation for sensorineural hearing loss in patients with Waardenburg syndrome. Method. Read More

    Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature.
    Turk J Anaesthesiol Reanim 2015 Oct 21;43(5):360-2. Epub 2015 Aug 21.
    Clinic of Anaesthesiology, Dışkapı Yıldırım Beyazıt Training and Reseacrh Hospital, Ankara, Turkey.
    Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%-3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. Read More

    A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs.
    BMC Biol 2016 Jun 27;14:52. Epub 2016 Jun 27.
    State Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China.
    Background: Genesis of novel gene regulatory modules is largely responsible for morphological and functional evolution. De novo generation of novel cis-regulatory elements (CREs) is much rarer than genomic events that alter existing CREs such as transposition, promoter switching or co-option. Only one case of de novo generation has been reported to date, in fish and without involvement of phenotype alteration. Read More

    [Mutation analysis of seven patients with Waardenburg syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Jun;33(3):312-5
    Department of Center Laboratory, Taiyuan Central Hospital, Taiyuan, Shanxi 030009, China.
    Objective: To perform genetic analysis for 7 patients with Waardenburg syndrome.

    Methods: Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software. Read More

    Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome.
    Audiol Neurootol 2016 1;21(3):187-94. Epub 2016 Jun 1.
    Department of Otorhinolaryngology - Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.
    Objective: To analyse the benefit of cochlear implantation in young deaf children with Waardenburg syndrome (WS) compared to a reference group of young deaf children without additional disabilities.

    Method: A retrospective study was conducted on children with WS who underwent cochlear implantation at the age of 2 years or younger. The post-operative results for speech perception (phonetically balanced standard Dutch consonant-vocal-consonant word lists) and language comprehension (the Reynell Developmental Language Scales, RDLS), expressed as a language quotient (LQ), were compared between the WS group and the reference group by using multiple linear regression analysis. Read More

    Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.
    Int J Pediatr Otorhinolaryngol 2016 Jun 7;85:56-61. Epub 2016 Apr 7.
    Department of Otolaryngology, First Hospital of Kunming Medical University, Kunming, Yunnan, China. Electronic address:
    Objective: Waardenburg syndrome is a congenital genetic disorder. It is the most common type of syndromic hearing impairment with highly genetic heterogeneity and proved to be related by 6 genes as follows: PAX3, MITF, SNAI2, EDN3, EDNRB and SOX10. This article aims to identify the genetic causes of a Chinese WS child patient. Read More

    Pigmentation-based insertional mutagenesis is a simple and potent screening approach for identifying neurocristopathy-associated genes in mice.
    Rare Dis 2016 3;4(1):e1156287. Epub 2016 Mar 3.
    Molecular Genetics of Development Laboratory, Department of Biological Sciences and BioMed Research Center, Faculty of Sciences, University of Quebec at Montreal (UQAM), Montreal, Quebec, Canada; UQAM Research Chair on Rare Genetic Diseases, Montreal, Canada.
    Neurocristopathies form a specific group of rare genetic diseases in which a defect in neural crest cell development is causal. Because of the large number of neural crest cell derivatives, distinct structures/cell types (isolated or in combination) are affected in each neurocristopathy. The most important issues in this research field is that the underlying genetic cause and associated pathogenic mechanism of most cases of neurocristopathy are poorly understood. Read More

    A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1.
    Hum Genome Var 2016 3;3:16005. Epub 2016 Mar 3.
    Division of Oral and Maxillofacial Biopathological Surgery, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine , Yonago, Japan.
    Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c. Read More

    A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.
    Exp Ther Med 2016 Apr 1;11(4):1516-1518. Epub 2016 Feb 1.
    Medical Genetic Laboratory, Department of Obstetrics and Gynecology, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China.
    Waardenburg syndrome (WS) is an autosomal dominant disorder with varying degrees of sensorineural hearing loss, and accumulation of pigmentation in hair, skin and iris. There are four types of WS (WS1-4) with differing characteristics. Mutations in six genes [paired box gene 3 (PAX3), microphthalmia-associated transcription factor (MITF), endothelin 3 (END3), endothelin receptor type B (EDNRB), SRY (sex determining region Y)-box 10 (SOX10) and snail homolog 2 (SNAI2)] have been identified to be associated with the various types. Read More

    Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.
    Med Oral Patol Oral Cir Bucal 2016 May 1;21(3):e321-7. Epub 2016 May 1.
    Rua Walter Ferreira Barreto, 57, Zip Code: 39401-347, Montes Claros, Minas Gerais, Brazil,
    Background: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations.

    Material And Methods: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. Read More

    Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
    PLoS One 2016 28;11(3):e0151909. Epub 2016 Mar 28.
    ENT Department, Xiangya Hospital, Central South University, Changsha, Hunan, China.
    Objective: The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.

    Methods: We developed a microarray to detect 240 mutations underlying syndromic and nonsyndromic sensorineural hearing loss. The microarray was then used for analysis of 382 patients with nonsyndromic sensorineural hearing loss (including 15 patients with enlarged vestibular aqueduct syndrome), 21 patients with Waardenburg syndrome, and 60 unrelated controls. Read More

    A novel mutation in PAX3 associated with Waardenburg syndrome type I in a Chinese family.
    Acta Otolaryngol 2016 29;136(5):439-45. Epub 2016 Jan 29.
    a Department of Otorhinolaryngology Head and Neck Surgery , Shandong Provincial Hospital Affiliated to Shandong University , Jinan , PR China ;
    Conclusion: The novel compound heterozygous mutation in PAX3 was the key genetic reason for WS1 in this family, which was useful to the molecular diagnosis of WS1.

    Purpose: Screening the pathogenic mutations in a four generation Chinese family with Waardenburg syndrome type I (WS1).

    Methods: WS1 was diagnosed in a 4-year-old boy according to the Waardenburg syndrome Consortium criteria. Read More

    Clinical and genetic investigation of families with type II Waardenburg syndrome.
    Mol Med Rep 2016 Mar 13;13(3):1983-8. Epub 2016 Jan 13.
    Department of Otolaryngology, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China.
    The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. Read More

    [Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2015 Dec;32(6):810-3
    Key Laboratory of Genetics and Birth Health of Hunan Province, the Family Planning Institute of Hunan Province, Changsha, Hunan 410126, P.R. China.
    Objective: To explore the molecular etiology of two pedigrees affected with type II Waardenburg syndrome (WS2) and to provide genetic diagnosis and counseling.

    Methods: Blood samples were collected from the proband and his family members. Following extraction of genomic DNA, the coding sequences of PAX3, MITF, SOX10 and SNAI2 genes were amplified with PCR and subjected to DNA sequencing to detect potential mutations. Read More

    [Analysis of nuclear localization and signal function of MITF protein predisposing to Warrdenburg syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2015 Dec;32(6):805-9
    Department of Otorhinolaryngology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830011, P.R. China.
    Objective: To study the role of dysfunction of nuclear localization signals (NLS) of MITF protein in the pathogenesis of Waardenburg syndrome.

    Methods: Eukaryotic expression plasmid pCMV-MITF-Flag was used as a template to generate mutant plasmid pCMV-MITF△NLS-Flag by molecular cloning technique in order to design the mutagenic primers. The UACC903 cells were transfected transiently with MITF and MITF△NLS plasmids, and the luciferase activity assays were performed to determine their impact on the transcriptional activities of target gene tyrosinase (TYR). Read More

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