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Hereditary nonsyndromic hearing loss is highly heterogeneous and most patients with a presumed genetic etiology lack a specific diagnosis. It has been estimated that several hundred genes may be associated with this sensory deficit in humans. Here, we identified compound heterozygous mutations in the TMC1 gene as the cause of recessively inherited(More)
Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiology lack a specific molecular diagnosis. By whole exome sequencing, we identified responsible gene of family 4794(More)
Dwarf interstock produced smaller tree size and a more uniform leaf area spatial distribution of vegetative short shoot. These improved light interception and increased light partitioning to fruiting shoot. The agronomic efficiency of dwarf interstocks is controversial in China, where almost 90 % of apple orchards, including high-density orchards, currently(More)
Mutations in PTPRQ are associated with deafness in humans due to defects of stereocilia in hair cells. Using whole exome sequencing, we identified responsible gene of family 1572 with autosomal recessively non-syndromic hearing loss (ARNSHL). We also used DNA from 74 familial patients with ARNSHL and 656 ethnically matched control chromosomes to perform(More)
The following information is missing from the Competing Interests section: " Xi Lin owns stocks in Otogenetics Corporation, which may be a source of potential conflict of interest for materials presented in this paper. This does not alter our adherence to PLOS ONE policies on sharing data and materials. " Reference 1. article distributed under the terms of(More)
TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness (designated DFNA) or as the autosomal-recessive version. The α-tectorin protein, which is encoded by the TECTA gene, is one of the major components of the tectorial membrane in the inner ear. Using targeted DNA capture and massively parallel sequencing (MPS), we screened 42(More)
Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP), and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1). Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese(More)
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