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    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

    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

    [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

    Waardenburg syndrome: Novel mutations in a large Brazilian sample.
    Eur J Med Genet 2018 Jan 30. Epub 2018 Jan 30.
    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

    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 Jan 17. Epub 2018 Jan 17.
    Institut für Biochemie, Emil-Fischer-Zentrum, Friedrich-Alexander Universität Erlangen-Nürnberg, D-91054 Erlangen.
    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

    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

    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

    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

    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

    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

    ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children.
    Eur Respir J 2017 Dec 7;50(6). Epub 2017 Dec 7.
    Dept of Paediatrics, Antwerp University Hospital, Edegem, Belgium.
    The present statement was produced by a European Respiratory Society Task Force to summarise the evidence and current practice on the diagnosis and management of obstructive sleep disordered breathing (SDB) in children aged 1-23 months. A systematic literature search was completed and 159 articles were summarised to answer clinically relevant questions. SDB is suspected when symptoms or abnormalities related to upper airway obstruction are identified. Read More

    First Report of Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination.
    Pediatr Dev Pathol 2017 Jan 1:1093526617744714. Epub 2017 Jan 1.
    1 Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina.
    The SOX10 gene plays a vital role in neural crest cell development and migration. Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. This case report highlights the first ever reported homozygous loss of function of the SOX10 gene in a human. Read More

    The outcome of cochlear implantation among children with genetic syndromes.
    Eur Arch Otorhinolaryngol 2018 Feb 4;275(2):365-369. Epub 2017 Dec 4.
    King Abdullah Ear Specialist Center (KAESC), College of Medicine, King Saud University, PO Box 245, Riyadh, 11411, Saudi Arabia.
    Objective: To assess the outcome and efficacy of cochlear implantation in children with genetic syndromes.

    Method: Study design: case-control study.

    Setting: A cochlear implantation tertiary referral center. Read More

    Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.
    Gene 2018 Feb 20;642:362-366. Epub 2017 Nov 20.
    Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central south University, Changsha 410008, People's Republic of China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, People's Republic of China. Electronic address:
    Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant genetic disorder of neural crest cells (NCC) characterized by congenital sensorineural hearing loss, dystopia canthorum, and abnormal iris pigmentation. WS1 is due to loss-of-function mutations in paired box gene 3 (PAX3). Here, we identified a novel PAX3 mutation (c. Read More

    Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.
    Mol Med Rep 2018 Jan 25;17(1):172-178. Epub 2017 Oct 25.
    Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, P.R. China.
    Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. Read More

    Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.
    Int J Pediatr Otorhinolaryngol 2017 Nov 4;102:114-118. Epub 2017 Sep 4.
    Department of Otolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200011, China; Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases (14DZ2260300), Shanghai, 200011, China. Electronic address:
    Aims: The purpose of this study was to identify the genetic causes of a family presenting with multiple symptoms overlapping Usher syndrome type II (USH2) and Waardenburg syndrome type IV (WS4).

    Methods: Targeted next-generation sequencing including the exon and flanking intron sequences of 79 deafness genes was performed on the proband. Co-segregation of the disease phenotype and the detected variants were confirmed in all family members by PCR amplification and Sanger sequencing. Read More

    Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.
    Hum Genet 2017 Nov 1;136(11-12):1463-1475. Epub 2017 Nov 1.
    State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
    Human Waardenburg syndrome 2A (WS2A) is a dominant hearing loss (HL) syndrome caused by mutations in the microphthalmia-associated transcription factor (MITF) gene. In mouse models with MITF mutations, WS2A is transmitted in a recessive pattern, which limits the study of hearing loss (HL) pathology. In the current study, we performed ENU (ethylnitrosourea) mutagenesis that resulted in substituting a conserved lysine with a serine (p. Read More

    Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.
    Genet Test Mol Biomarkers 2017 Nov 18;21(11):681-685. Epub 2017 Oct 18.
    1 Department of Otolaryngology-Head and Neck Surgery, First Hospital of Jilin University , Changchun, China .
    Objectives: Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cause of WSII in a patient and evaluated the reliability of the targeted next-generation exome sequencing method for the genetic diagnosis of WS.

    Methods: Clinical evaluations were conducted on the patient and targeted next-generation sequencing (NGS) was used to identify the candidate genes responsible for WSII. Read More

    Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.
    Biochem Biophys Res Commun 2017 11 9;493(1):258-262. Epub 2017 Sep 9.
    Department of Otolaryngology Head and Neck Surgery, Xiangya Hosipital, Central South University, Changsha, Hunan, People's Republic of China; Province Key Laboratory of Otolaryngology Critical Disease, Xiangya Hosipital, Central South University, Changsha, Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, People's Republic of China. Electronic address:
    Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms. Read More

    Identification of rare paired box 3 variant in strabismus by whole exome sequencing.
    Int J Ophthalmol 2017 18;10(8):1223-1228. Epub 2017 Aug 18.
    Department of Medical Equipment, Weifang People's Hospital, Weifang 261041, Shandong Province, China.
    Aim: To identify the potentially pathogenic gene variants that contributes to the etiology of strabismus.

    Methods: A Chinese pedigree with strabismus was collected and the exomes of two affected individuals were sequenced using the next-generation sequencing technology. The resulting variants from exome sequencing were filtered by subsequent bioinformatics methods and the candidate mutation was verified as heterozygous in the affected proposita and her mother by sanger sequencing. Read More

    Analogs of human genetic skin disease in domesticated animals.
    Int J Womens Dermatol 2017 Sep 3;3(3):170-175. Epub 2017 Mar 3.
    Department of Dermatology, University of Connecticut School of Medicine, Farmington, CT.
    Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them. Read More

    A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome.
    Eur J Med Genet 2017 Nov 12;60(11):578-582. Epub 2017 Aug 12.
    Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:
    Waardenburg anophthalmia syndrome (WAS) is a rare disorder that mostly affects the eyes and distal limbs. In the current study we reported two Iranian patients with WAS. The first case was a 26-year-old girl with unilateral anophthalmia, bilateral camptodactyly and clinodactyly in her hands, oligodactly in her left foot and syndactyly of the second to fifth toes in her right foot. Read More

    Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents.
    Int J Pediatr Otorhinolaryngol 2017 Oct 29;101:254-258. Epub 2017 Jul 29.
    Clinic of Audiology & ENT, University of Ferrara, Italy.
    Background: Enlarged Vestibular Aqueduct (EVA) is one of the most common congenital malformations associated with sensorineural or mixed hearing loss. The association between hearing loss and EVA is described in syndromic (i.e. Read More

    [Study of gene mutation and pathogenetic mechanism for a family with Waardenburg syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Aug;34(4):471-475
    Department of Otolaryngology, Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
    Objective: To explore the pathogenetic mechanism of a family affected with Waardenburg syndrome.

    Methods: Clinical data of the family was collected. Potential mutation of the MITF, SOX10 and SNAI2 genes were screened. Read More

    Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
    Hum Genome Var 2017 29;4:17027. Epub 2017 Jun 29.
    Institute of Biomedical Sciences, Shanxi University, Taiyuan, China.
    Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) ingene, predicted to be disease causing byanalysis. Read More

    A Novel Pathogenic Variant in theGene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.
    Mol Syndromol 2017 Jun 30;8(4):195-200. Epub 2017 May 30.
    Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran.
    Waardenburg syndrome (WS) is a rare genetic disorder characterized by abnormal pigmentation of the hair, skin, and iris as well as sensorineural hearing loss. WS is subdivided into 4 major types (WS1-4), where WS2 is characterized by the absence of dystopia canthorum. This study was launched to investigate clinical and molecular characteristics of WS in an extended Iranian WS2 family. Read More

    Neural tube defects in Waardenburg syndrome: A case report and review of the literature.
    Am J Med Genet A 2017 Sep 7;173(9):2472-2477. Epub 2017 Jul 7.
    Joan C Edwards School of Medicine, Marshall University, Huntington, West Virginia.
    Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes. Read More

    Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.
    J Peripher Nerv Syst 2017 Sep;22(3):219-223
    Department of Neurology, Adelaide & Meath Hospitals incorporating the National Children's Hospital, Tallaght, Ireland.
    Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. Read More

    Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1.
    Auris Nasus Larynx 2018 Apr 11;45(2):222-226. Epub 2017 May 11.
    Division of Hearing and Balance Research, National Institute of Sensory Organ, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152-8902, Japan; Medical Genetics Center, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo 152-8902, Japan. Electronic address:
    Objective: To examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1).

    Methods: Clinical features related to Waardenburg syndrome (WS) were examined in a five-year old patient. Mutation analysis of genes related to WS was performed in the proband and her parents. Read More

    Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review.
    Acta Otolaryngol 2017 Jul 24;137(7):730-742. Epub 2017 Feb 24.
    a Department of Otorhinolaryngology , Shinshu University School of Medicine , Matsumoto, Nagano , Japan.
    Conclusion: Most of the cases with gene mutations of intra-cochlear etiology showed relatively good CI outcomes. To progress toward more solid evidence-based CI intervention, a greater number of reports including CI outcomes for specific gene mutations are desired.

    Background: Cochlear implantation (CI) is the most important and effective treatment for patients with profound sensorineural hearing loss. Read More

    Waardenburg Syndrome: An Unusual Indication of Cochlear Implantation Experienced in 11 Patients.
    J Int Adv Otol 2017 Aug 17;13(2):230-232. 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 Aug 6;66(3):245-250. Epub 2017 Apr 6.
    Department of Applied Molecular Bioscience, Graduate School of Bioagricultural Sciences, Nagoya University, Furo-cho, Chikusa-ku, Nagoya, Aichi 464-8601, Japan.
    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 Jul 30;62(7):703-709. 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 05 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 Jun 6;97(6):649-656. 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 Jul-Aug;38(4):335-339. 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

    [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.
    To analyze the mutations ofgene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus.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

    [10 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.
    To determine the relevance between the10 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 the10 mutation.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

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