Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

Orphanet Journal of Rare Diseases
Lichun JiangRuifang Sui

Abstract

Usher syndrome (USH) is the most common disease causing combined deafness and blindness. It is predominantly an autosomal recessive genetic disorder with occasionally digenic cases. Molecular diagnosis of USH patients is important for disease management. Few studies have tried to find the genetic cause of USH in Chinese patients. This study was designed to determine the mutation spectrum of Chinese USH patients. We applied next generation sequencing to characterize the mutation spectrum in 67 independent Chinese families with at least one member diagnosed with USH. Blood was collected at Peking Union Medical College Hospital. This cohort is one of the largest USH cohorts reported. We utilized customized panel and whole exome sequencing, variant analysis, Sanger validation and segregation tests to find disease causing mutations in these families. We identified biallelic disease causing mutations in known USH genes in 70 % (49) of our patients. As has been previously reported, MYO7A is the most frequently mutated gene in our USH type I patients while USH2A is the most mutated gene in our USH type II patients. In addition, we identify mutations in CLRN1, DFNB31, GPR98 and PCDH15 for the first time in Chinese USH patients. Together...Continue Reading

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Citations

Apr 26, 2016·Journal of Tissue Engineering and Regenerative Medicine·Yu Qiang SohJodhbir S Mehta
Oct 13, 2016·International Journal of Pediatric Otorhinolaryngology·Ling ZongHongyan Jiang
Sep 16, 2016·Journal of Medical Genetics·Qing FuRui Chen
Nov 3, 2016·Current Opinion in Pediatrics·Christina M Sloan-Heggen, Richard J H Smith
Mar 25, 2018·Journal of Medical Genetics·Zubair M AhmedSaima Riazuddin
Dec 12, 2018·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Guillaume JouretAnne-Sophie Lebre
Jul 18, 2020·The British Journal of Ophthalmology·Tian ZhuRuifang Sui
Sep 26, 2017·Molecular Medicine Reports·Hong DuanHuijun Yuan
Jan 1, 2017·Hearing, Balance and Communication·Chunyan QuXuezhong Liu
Oct 1, 2020·Therapeutic Advances in Ophthalmology·Maria TomsMariya Moosajee
Nov 4, 2020·Experimental Eye Research·Shijing WuRuifang Sui
May 1, 2021·International Journal of Molecular Sciences·Evan M de JoyaXuezhong Liu
May 1, 2021·BMC Ophthalmology·Asif Naveed AhmedShamim Saleha
Jul 3, 2021·International Journal of Molecular Sciences·Carla Fuster-GarcíaGema García-García

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Methods Mentioned

BETA
exome sequencing
cochlear implants

Software Mentioned

CADD

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