1,193 results match your criteria Waardenburg Syndrome


Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

J Eur Acad Dermatol Venereol 2022 May 11. Epub 2022 May 11.

Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.

Background: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper- and hypopigmentation, all of which are inherited in an autosomal dominant manner.

Objectives: To describe the genotypic and clinical spectrum of biallelic KITLG-variants.

Methods: We used a genotype-first approach through the GeneMatcher data sharing platform to collect individuals with biallelic KITLG variants and reviewed the literature for overlapping reports. Read More

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[Evaluation of hearing and speech rehabilitation after cochlear implantation in children with Waardenburg syndrome].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2022 May;36(5):347-352

Department of Otolaryngology Head and Neck Surgery,Kunming Children's Hospital(Yunnan Children's Medical Center,Children's Hospital Affiliated to Kunming Medical University),Kunming,650100,China.

By comparing the hearing and speech rehabilitation effects of cochlear implantation (CI) in children with Waardenburg syndrome (WS) and children with common deafness genes (, ) in the Chinese population, and the hearing and speech rehabilitation effects of bilateral CI and unilateral CI in children with WS, to provide a reference for clinical CIin children with WS. Follow up and return visit 72 pedestrian cochlear implant children with severe and above sensorineural hearing loss and clear gene mutation type diagnosed by Kunming Children's Hospital from 2017 to 2019, including 24 cases in the WS group, 24 cases in the control group ( deafness group and deafness group). All enrolled children were evaluated for auditory and speech ability 12 months after startup. Read More

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Association of type II Waardenburg syndrome with hypermetropic amblyopia.

Int J Ophthalmol 2022 18;15(4):677-680. Epub 2022 Apr 18.

Department of Ophthalmology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.

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Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Commun Biol 2022 Apr 19;5(1):369. Epub 2022 Apr 19.

Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Centre, New York, NY, 10032, USA.

We investigated hearing impairment (HI) in 51 families from Ghana with at least two affected members that were negative for GJB2 pathogenic variants. DNA samples from 184 family members underwent whole-exome sequencing (WES). Variants were found in 14 known non-syndromic HI (NSHI) genes [26/51 (51. Read More

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Isolated Right Superior Vena Cava Drained to Left Atrium in a Child with Waardenburg Syndrome and Neurofibromatosis Type I.

J Saudi Heart Assoc 2022 10;34(1):11-14. Epub 2022 Mar 10.

Pediatric Cardiology, King Salman Heart Center, King Fahad Medical City, Riyadh, Saudi Arabia.

Isolated right superior vena cava (SVC) draining to the left atrium (RSVC-LA) is an extremely rare cyanotic congenital heart disease (CHD). Such lesion is easily missed with improper scanning or inattentive interpretation of echocardiography. This can result in potential systemic severe complications. Read More

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Waardenburg-Shah syndrome rare and challenging case report from Somalia.

Int J Surg Case Rep 2022 Apr 15;93:106952. Epub 2022 Mar 15.

Pediatric Surgery Department in Mogadishu Somali Turkish Training and Research Hospital, Mogadishu, Somalia.

Introduction And Importance: Waardenburg-Shah disorder could be an uncommon autosomal recessive inherited ailment characterized by aganglionic megacolon with a high mortality rate. Babies born with Waardenburg syndrome may have typical features of hair, skin and eye pigmentary abnormalities, and hearing loss. Here we present a case with typical presentation of Waardenburg Shah syndrome. Read More

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Hearing Function, Degeneration, and Disease: Spotlight on the Stria Vascularis.

Front Cell Dev Biol 2022 4;10:841708. Epub 2022 Mar 4.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.

The stria vascularis (SV) is a highly vascularized tissue lining the lateral wall of the cochlea. The SV maintains cochlear fluid homeostasis, generating the endocochlear potential that is required for sound transduction. In addition, the SV acts as an important blood-labyrinth barrier, tightly regulating the passage of molecules from the blood into the cochlea. Read More

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Sox10 Gene Is Required for the Survival of Saccular and Utricular Hair Cells in a Porcine Model.

Mol Neurobiol 2022 Mar 5. Epub 2022 Mar 5.

College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing, 100853, China.

Pathological changes of the cochlea and hearing loss have been well addressed in Waardenburg syndrome (WS). However, the vestibular organ malformation in WS is still largely unknown. In this study, the differentiation and development of vestibular sensory epithelium and vestibular function caused by SOX10 mutation, a critical gene induces WS, have been studied in minature pig model. Read More

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Genetic etiology of hearing loss in Iran.

Hum Genet 2022 Apr 20;141(3-4):623-631. Epub 2022 Jan 20.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Alley, Daneshjoo Blvd., Evin St., 1985713834, Tehran, Iran.

Hearing loss (HL) is an etiologically heterogeneous disorder that affects around 5% of the world's population. There has been an exponential increase in the identification of genes and variants responsible for hereditary HL over recent years. Iran, a country located in the Middle East, has a high prevalence of consanguineous marriages, so heterogeneous diseases such as HL are more common. Read More

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Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review.

OMICS 2022 01;26(1):2-18

Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

Hearing impairment (HI) is a silent planetary health crisis that requires attention worldwide. The prevalence of HI in South Africa is estimated as 5.5 in 100 live births, which is about 5 times higher than the prevalence in high-income countries. Read More

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January 2022

Etiologies of Childhood Hearing Impairment in Schools for the Deaf in Mali.

Front Pediatr 2021 29;9:726776. Epub 2021 Nov 29.

Division of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa.

To identify the etiologies of hearing impairment (HI) in schools for students who are deaf and to use a systematic review to summarize reports on the etiologies and clinical and genetic features of HI in Mali. We included individuals with HI that started before the age of 15 years old. Patients were carefully evaluated under standard practices, and pure-tone audiometry was performed where possible. Read More

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November 2021

Establishment of an induced pluripotent stem cell line (ZZUPMCi001-A) derived from peripheral blood mononuclear cells in a patient with type 1 Waardenburg syndrome.

Stem Cell Res 2021 Nov 25;57:102606. Epub 2021 Nov 25.

Precision Medicine Center, Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China; The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China; Henan Institute of Medical and Pharmaceutical Sciences, Zhengzhou University, Zhengzhou, China. Electronic address:

Waardenburg syndrome type I (WS1) is a human autosomal dominant genetic disease characterized by sensorineural hearing loss, pigmentary abnormalities, and dystopia canthorum. In this study, we generated an induced pluripotent stem cell (iPSC) line using non-integrative Sendai viral reprogramming technology from the peripheral blood mononuclear cells (PBMCs) of a 29-year-old woman affected with WS1, caused by a heterozygous frameshift mutation in the PAX3 (NM_181459.4:c. Read More

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November 2021

Peripheral Vestibular Dysfunction Is a Common Occurrence in Children With Non-syndromic and Syndromic Genetic Hearing Loss.

Front Neurol 2021 21;12:714543. Epub 2021 Oct 21.

Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, MA, United States.

Hearing loss (HL) is the most common sensory deficit in humans and is frequently accompanied by peripheral vestibular loss (PVL). While often overlooked, PVL is an important sensory dysfunction that may impair development of motor milestones in children and can have a significant negative impact on quality of life. In addition, many animal and models of deafness use vestibular hair cells as a proxy to study cochlear hair cells. Read More

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October 2021

Perioperative Care of a Patient With Waardenburg Syndrome.

J Med Cases 2021 Oct 29;12(10):381-385. Epub 2021 Sep 29.

Department of Anesthesiology & Pain Medicine, Nationwide Children's Hospital and the Department of Anesthesiology & Pain Medicine, The Ohio State University College of Medicine, Columbus, OH, USA.

Waardenburg syndrome is a genetic disorder, resulting in defective control of the division and migration of neural crest cells including the melanocyte lineage during embryonic development. Primary involvement of melanocytes results in the characteristic phenotypic involvement including a white forelock, vitiligo, and heterochromia. Involvement of the organ of Corti leads to sensorineural hearing loss. Read More

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October 2021

Generation of a heterozygous SOX10 knockout human embryonic stem cell line using CRISPR/Cas9 technology.

Stem Cell Res 2021 Oct 11;57:102567. Epub 2021 Oct 11.

Cardiovascular Department, The Eighth Affiliated Hospital, Sun Yat-Sen University, Shenzhen, Guangdong, China. Electronic address:

SOX10 is one of the master transcription factors in neural crest development. Human SOX10 mutations are associated with Waardenburg syndrome type 4 (Waardenburg-Shah, WS4), which can be inherited in both autosomal dominant and recessive patterns. Here, the human embryonic stem cell (hESC) line, H9, was used to generate a heterozygous SOX10 knockout cell line as the in vitro model of WS4 by CRISPR/Cas9-mediated gene targeting. Read More

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October 2021

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.

J Med Genet 2022 02 19;59(2):105-114. Epub 2021 Oct 19.

Department of Embryology and Genetics of Malformations, INSERM UMR 1163, Université de Paris and Institut Imagine, Paris, France

SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group box-containing (SOX) proteins, most of which contribute to cell type specification and differentiation of various lineages. The first clue that SOX10 is essential for development, especially in the neural crest, came with the discovery that heterozygous mutations occurring within and around SOX10 cause Waardenburg syndrome type 4. Since then, heterozygous mutations have been reported in Waardenburg syndrome type 2 (Waardenburg syndrome type without Hirschsprung disease), PCWH or PCW (peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, with or without Hirschsprung disease), intestinal manifestations beyond Hirschsprung (ie, chronic intestinal pseudo-obstruction), Kallmann syndrome and cancer. Read More

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February 2022

[Application of next generation sequencing in 3 Waardenburg syndrome].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2021 Oct;35(10):910-913;919

Department of Otolaryngology Head and Neck Surgery,Zhejiang University School of Medicine Children's Hospital,National Clinical Research Center for Health in Children,Hangzhou,310000,China.

To test the gene sequence of 3 patients with Waardenburg syndrome(WS) using the next generation sequencing technology in order to explore the possible mechanism of molecular genetics. Medical histories of the family members were collected. Physical examination, audiological evaluation and CT examination were performed. Read More

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October 2021

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.

Hum Genet 2022 Apr 1;141(3-4):519-538. Epub 2021 Oct 1.

Laboratório de Otorrinolaringologia/LIM 32, Hospital das Clínicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.

Hearing loss is one of the most common sensory defects, affecting 5.5% of the worldwide population and significantly impacting health and social life. It is mainly attributed to genetic causes, but their relative contribution reflects the geographical region's socio-economic development. Read More

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Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.

BMC Med Genomics 2021 09 20;14(1):230. Epub 2021 Sep 20.

Department of Genetics, Faculty of Advanced Sciences and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.

Background: The characteristics of Waardenburg syndrome (WS) as a scarce heritable disorder are sensorineural hearing loss and deficits of pigmentation in the skin, hair, and eye. Here, clinical features and detection of the mutation in the MITF gene of WS2 patients are reported in a sizable Iranian family.

Methods: A man aged 28-years represented with symptoms of mild unilateral hearing loss (right ear), complete heterochromia iridis, premature graying prior to 30 years of age, and synophrys. Read More

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September 2021

Case Report: A Novel Gross Deletion in (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing.

Front Genet 2021 11;12:705973. Epub 2021 Aug 11.

Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China.

Waardenburg syndrome (WS) is a group of autosomal-dominant hereditary conditions with a global incidence of 1/42,000. WS can be categorized into at least four types: WS1-4, and these are characterized by heterochromia iridis, white forelock, prominent nasal root, dystopia canthorum, hypertrichosis of the medial part of the eyebrows, and deaf-mutism. WS3 is extremely rare, with a unique phenotype (upper limb abnormality). Read More

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SOX10 ablation severely impairs the generation of postmigratory neural crest from human pluripotent stem cells.

Cell Death Dis 2021 08 27;12(9):814. Epub 2021 Aug 27.

VIP Medical Service Center, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.

Animal studies have indicated that SOX10 is one of the key transcription factors regulating the proliferation, migration and differentiation of multipotent neural crest (NC), and mutation of SOX10 in humans may lead to type 4 Waardenburg syndrome (WS). However, the exact role of SOX10 in human NC development and the underlying molecular mechanisms of SOX10-related human diseases remain poorly understood due to the lack of appropriate human model systems. In this study, we successfully generated SOX10-knockout human induced pluripotent stem cells (SOX10 hiPSCs) by the CRISPR-Cas9 gene editing tool. Read More

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A Model of Waardenburg Syndrome Using Patient-Derived iPSCs With a Mutation Displays Compromised Maturation and Function of the Neural Crest That Involves Inner Ear Development.

Front Cell Dev Biol 2021 6;9:720858. Epub 2021 Aug 6.

Department of Otorhinolaryngology, Xiangya Hospital Central South University, Changsha, China.

Waardenburg syndrome (WS) is an autosomal dominant inherited disorder that is characterized by sensorineural hearing loss and abnormal pigmentation. is one of its main pathogenicity genes. The generation of patient-specific induced pluripotent stem cells (iPSCs) is an efficient means to investigate the mechanisms of inherited human disease. Read More

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A Novel Frameshift Variant of the Gene in a Chinese Family with Waardenburg Syndrome Type 2.

Mol Syndromol 2021 Jul 14;12(4):244-249. Epub 2021 Jun 14.

Molecular Genetics Laboratory, Department of Clinical Laboratory Science, The Third Affiliated Hospital of Zhengzhou University - Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.

Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation involving the hair, skin and iris. WS is classified into 4 subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms and is mainly attributed to variants in the microphthalmia-associated transcription factor () gene. Read More

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Prehospital risk stratification in patients with chest pain.

Emerg Med J 2021 Nov 9;38(11):814-819. Epub 2021 Aug 9.

Expirimental Cardiology, University Medical Center Groningen, Groningen, The Netherlands.

Objectives: The History, ECG, Age, Risk Factors and Troponin (HEART) Score is a decision support tool applied by physicians in the emergency department developed to risk stratify low-risk patients presenting with chest pain. We assessed the potential value of this tool in prehospital setting, when applied by emergency medical services (EMS), and derived and validated a tool adapted to the prehospital setting in order to determine if it could assist with decisions regarding conveyance to a hospital.

Methods: EMS personnel prospectively determined the HEART Score, including point-of-care (POC) troponin measurements, in patients presenting with chest pain, in the north of the Netherlands. Read More

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November 2021

Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.

Mol Genet Genomic Med 2021 09 29;9(9):e1770. Epub 2021 Jul 29.

Medical Genetics Center, Southwest Hospital, Army Medical University, Chongqing, China.

Background: Waardenburg syndrome (WS) is a rare autosomal-dominant syndrome and is characterized by sensorineural hearing loss and pigment abnormalities. It is subdivided into four types according to the clinical characteristics. MITF is one of the major pathogenic genes for type II. Read More

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September 2021

[Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅰcaused by a novel mutation in gene].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2021 Jul;35(7):621-626

Department of Otolaryngology Head and Neck Surgery,Kunming Children's Hospital,(Children's Hospital Affiliated to Kunming Medical University),Kunming,650228,China.

To identify gene mutation and analysis the association between clinical characterizes and the mutations in a family of Waardenburg syndrome (WS) type I in Yunnan, China. With informed consent, the proband with WS phenotype and his family members were given medical history collection, physical examination and audiological evaluation. Peripheral blood was obtained, genomic DNA was extracted, and deafness related genes were detected by high-throughput sequencing. Read More

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Clinical phenocopies of albinism.

J AAPOS 2021 08 17;25(4):220.e1-220.e8. Epub 2021 Jul 17.

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.

Purpose: To present a series of patients diagnosed with oculocutaneous albinism (OCA) based on clinical presentation who were later proven to have a different diagnosis.

Methods: The medical records of patients seen at the Pediatric Inherited Eye Disease Clinic of the University of Iowa from 1980 to 2018 who were eventually discovered to have an incorrect diagnosis of OCA were reviewed retrospectively.

Results: Eight pediatric patients presenting with clinical features suggestive of OCA which changed to a different diagnosis over time were identified. Read More

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Nerve-associated Schwann cell precursors contribute extracutaneous melanocytes to the heart, inner ear, supraorbital locations and brain meninges.

Cell Mol Life Sci 2021 Aug 18;78(16):6033-6049. Epub 2021 Jul 18.

Department of Neuroimmunology, Center for Brain Research, Medical University Vienna, Vienna, Austria.

Melanocytes are pigmented cells residing mostly in the skin and hair follicles of vertebrates, where they contribute to colouration and protection against UV-B radiation. However, the spectrum of their functions reaches far beyond that. For instance, these pigment-producing cells are found inside the inner ear, where they contribute to the hearing function, and in the heart, where they are involved in the electrical conductivity and support the stiffness of cardiac valves. Read More

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A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.

BMC Neurol 2021 Jun 25;21(1):243. Epub 2021 Jun 25.

Department of Neurology, Fukushima Medical University, 1 Hikarigaoka, Fukushima, Fukushima, 960-1295, Japan.

Background: Hereditary motor and sensory neuropathy, also referred to as Charcot-Marie-Tooth disease (CMT), is most often caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. This duplication causes CMT type 1A (CMT1A). CMT1A rarely occurs in combination with other hereditary neuromuscular disorders. Read More

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Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.

Eur J Med Genet 2021 Sep 22;64(9):104265. Epub 2021 Jun 22.

The Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. Electronic address:

The SRY-related HMG box gene 10 (SOX10), located on 22q13.1, encodes a member of the SOX family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate and differentiation. SOX10 is one of the six causal genes for Waardenburg syndrome, which is a dominantly inherited auditory-pigmentary disorder characterized by sensorineural hearing impairment and abnormal pigmentation of the hair, skin and iris. Read More

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September 2021