A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder
نویسندگان
چکیده
منابع مشابه
Identification of a novel MYO7A mutation in Usher syndrome type 1
Usher syndrome (USH) is an autosomal recessive disease characterized by deafness and retinitis pigmentosa. In view of the high phenotypic and genetic heterogeneity in USH, performing genetic screening with traditional methods is impractical. In the present study, we carried out targeted next-generation sequencing (NGS) to uncover the underlying gene in an USH family (2 USH patients and 15 unaff...
متن کاملChildren With Auditory Neuropathy Spectrum Disorder (ANSD)
In 1991, Arnold Starr and colleagues described an 11-year-old child with the paradoxic findings of absent auditory brainstem responses in the presence of normal cochlear microphonics (CMs) and otoacoustic emissions (OAEs). The child demonstrated severely impaired speech understanding despite a mild loss of hearing sensitivity. Further evaluation showed impaired temporal processing as exhibited ...
متن کاملA homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
BACKGROUND Usher syndrome (USH) is a heterogeneous group of inherited retinitis pigmentosa (RP) and sensorineural hearing loss (SNHL) caused by mutations in at least 12 genes. Our aim is to identify additional USH-related genes. METHODS Clinical examination included visual acuity test, funduscopy and electroretinography. Genetic analysis included homozygosity mapping and whole exome sequencin...
متن کاملNovel mutations in MYO7A and USH2A in Usher syndrome.
PURPOSE Usher syndrome is an autosomal recessive disease associating retinitis pigmentosa and neurosensory deafness. Three clinical types (USH1, USH2, USH3) and 11 mutated genes or loci have been described. Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes type 1 and 2, respectively. These genes were screened in a series of patients suffering from Usher syndr...
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ژورنال
عنوان ژورنال: Molecular Medicine Reports
سال: 2017
ISSN: 1791-2997,1791-3004
DOI: 10.3892/mmr.2017.7053