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Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.


ABSTRACT: Usher syndrome (USH) is a leading cause of deaf-blindness in autosomal recessive trait. Phenotypic and genetic heterogeneities in USH make molecular diagnosis much difficult. This is a pilot study aiming to develop an approach based on next-generation sequencing to determine the genetic defects in patients with USH or allied diseases precisely and effectively. Eight affected patients and twelve unaffected relatives from five unrelated Chinese USH families, including 2 pseudo-dominant ones, were recruited. A total of 144 known genes of inherited retinal diseases were selected for deep exome resequencing. Through systematic data analysis using established bioinformatics pipeline and segregation analysis, a number of genetic variants were released. Eleven mutations, eight of them were novel, in the USH2A gene were identified. Biparental mutations in USH2A were revealed in 2 families with pseudo-dominant inheritance. A proband was found to have triple mutations, two of them were supposed to locate in the same chromosome. In conclusion, this study revealed the genetic defects in the USH2A gene and demonstrated the robustness of targeted exome sequencing to precisely and rapidly determine genetic defects. The methodology provides a reliable strategy for routine gene diagnosis of USH.

SUBMITTER: Huang XF 

PROVIDER: S-EPMC3667821 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

Huang Xiu-Feng XF   Xiang Ping P   Chen Jie J   Xing Dong-Jun DJ   Huang Na N   Min Qingjie Q   Gu Feng F   Tong Yi Y   Pang Chi-Pui CP   Qu Jia J   Jin Zi-Bing ZB  

PloS one 20130530 5


Usher syndrome (USH) is a leading cause of deaf-blindness in autosomal recessive trait. Phenotypic and genetic heterogeneities in USH make molecular diagnosis much difficult. This is a pilot study aiming to develop an approach based on next-generation sequencing to determine the genetic defects in patients with USH or allied diseases precisely and effectively. Eight affected patients and twelve unaffected relatives from five unrelated Chinese USH families, including 2 pseudo-dominant ones, were  ...[more]

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