Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV
| Autor: | Yang Shi, Hongyan Zhang, Min Zhao, Fenghe Liang, Chunyan Qu, Rui Han, Lynn Fan |
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| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Proband Heterozygote Candidate gene Adolescent Hearing loss DNA Mutational Analysis Frameshift mutation 03 medical and health sciences 0302 clinical medicine Asian People medicine Humans Waardenburg Syndrome Hirschsprung Disease Frameshift Mutation Genetics SOXE Transcription Factors Waardenburg syndrome business.industry Genetic disorder Exons General Medicine medicine.disease Pedigree 030104 developmental biology Otorhinolaryngology Codon Nonsense Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Sensorineural hearing loss medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | International Journal of Pediatric Otorhinolaryngology. 91:67-71 |
| ISSN: | 0165-5876 |
| Popis: | 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). Methods The patient and his family members were subjected to mutation detection in the candidate gene SOX10 by Sanger sequencing. Results The patient has the clinical features of WS4, including sensorineural hearing loss, bright blue irides, premature graying of the hair and Hirschsprung disease. A novel heterozygous frameshift mutation, c.752_753ins7 (p.Gly252Alafs*31) in the exon 5 of SOX10 was detected in the patient, but not found in the unaffected family members and 100 normal controls. This mutation results in a premature stop codon 31 amino acid downstream. Conclusions The novel mutation c.752_753ins7 (p.Gly252Alafs*31) arose de novo and was considered as the cause of WS4 in the proband. This study further characterized the molecular complexity of WS4 and provided a clinical case for genotype-phenotype correlation studies of different phenotypes caused by SOX10 mutations. |
| Databáze: | OpenAIRE |
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