Genetic screening revealed usher syndrome in a paediatric Chinese patient
| Autor: | Chunyan, Qu, Fenghe, Liang, Qin, Long, Min, Zhao, Haiqiong, Shang, Lynn, Fan, Li, Wang, Joseph, Foster, Denise, Yan, Xuezhong, Liu |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Proband Pediatrics medicine.medical_specialty MYO7A Hearing loss Usher syndrome 030105 genetics & heredity Audiology Compound heterozygosity Article 03 medical and health sciences Speech and Hearing symbols.namesake otorhinolaryngologic diseases Medicine Missense mutation Sanger sequencing Genetic heterogeneity business.industry medicine.disease eye diseases 030104 developmental biology Otorhinolaryngology symbols medicine.symptom business |
| Zdroj: | Hearing, Balance and Communication. 15:98-106 |
| ISSN: | 2169-5725 2169-5717 |
| Popis: | Introduction Usher syndrome is the most common cause of hereditary deaf-blindness. Three clinical subtypes have been classified. Usher syndrome type I is the most severe subtype characterized by congenital severe-to-profound hearing loss, retinitis pigmentosa and vestibular dysfunction. Methods One family was analyzed and the analysis included the combination of a custom capture/next-generation sequencing panel of 180 known deafness gene, Sanger sequencing and bioinformatics approaches. Results Compound heterozygous mutations in the MYO7A gene: a known missense mutation c.494C>T (p.Thr165Met) and a novel missense mutation c.6113G>A (p.Gly2038Glu) were identified in a proband. This Chinese hearing-impaired child was misdiagnosed as non-syndromic hearing loss which was later changed to the diagnosis of Usher syndrome type I after comprehensive audiometric, vestibular and ophthalmological examinations at 9 years old. Conclusions Due to the features of genetic heterogeneity and variation in clinical manifestation, molecular diagnosis and ophthalmological examinations by skilled ophthalmologists with knowledge of Usher syndrome should be suggested as a routine assessment which may improve the accuracy and reliability of etiological diagnosis for hearing loss. |
| Databáze: | OpenAIRE |
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