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    Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.
    Gene 2017 Nov 17. Epub 2017 Nov 17.
    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 2017 Oct 25. 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. 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 Nov 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) in PAX3 gene, predicted to be disease causing by in silico analysis. Read More

    A Novel Pathogenic Variant in the MITF Gene 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 2017 May 11. 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 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 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

    [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

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