![]() Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine. ![]() USH2A gene frameshift mutation homozygosity mapping short tandem repeat uniparental disomy (UPD) usher syndrome type IIA whole exome sequencing (WES). In summary, our discoveries can help further the understanding of the molecular pathogenesis of Usher syndrome type IIA to advance the prevention, diagnosis and therapy for this disorder. To test potential patients, WES, combined with STR analysis and homozygosity mapping, provides an accurate and useful strategy for genetic diagnosis. Although USH2A is an autosomal recessive disease, the effects of UPD should be informed in genetic counselling since the recurrence risk of an affected child is greatly reduced when the disease is due to the UPD mechanism. The variant was not included in the 1000 Human Genomes Project database, ExAC database, HGMD or gnomAD database, but was included in the ClinVar databases as pathogenic. The p.Arg34Serfs*41 variant produced a predicted truncated protein that removes all functional domains of USH2A. Further homozygosity mapping and STR analysis identified an unusual homozygous variant of proband that originated from maternal uniparental disomy (UPD). We identified a homozygous frameshift variant c.99_100insT (p.Arg34Serfs*41) in the USH2A gene in the proband that showed discordant segregation in the father. Functional domains of the pathogenic variant for USH2A were analysed. Whole exome sequencing (WES), Sanger sequencing, homozygosity mapping, short tandem repeat (STR) analysis and segregation analysis were performed. ![]() In the present study, a Chinese family with Usher syndrome was recruited. The mechanisms underlying the Usher syndrome are highly variable. Usher syndrome encompasses a group of genetically and clinically heterogeneous autosomal recessive disorders with hearing deficiencies and retinitis pigmentosa. ![]()
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