Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis PigmentosaReportar como inadecuado




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Objective

The purpose of this study was to investigate frequent disease-causing gene mutations in autosomal recessive retinitis pigmentosa arRP in the Japanese population.

Methods

In total, 99 Japanese patients with non-syndromic and unrelated arRP or sporadic RP spRP were recruited in this study and ophthalmic examinations were conducted for the diagnosis of RP. Among these patients, whole exome sequencing analysis of 30 RP patients and direct sequencing screening of all CNGA1 exons of the other 69 RP patients were performed.

Results

Whole exome sequencing of 30 arRP-spRP patients identified disease-causing gene mutations of CNGA1 four patients, EYS three patients and SAG one patient in eight patients and potential disease-causing gene variants of USH2A two patients, EYS one patient, TULP1 one patient and C2orf71 one patient in five patients. Screening of an additional 69 arRP-spRP patients for the CNGA1 gene mutation revealed one patient with a homozygous mutation.

Conclusions

This is the first identification of CNGA1 mutations in arRP Japanese patients. The frequency of CNGA1 gene mutation was 5.1% 5-99 patients. CNGA1 mutations are one of the most frequent arRP-causing mutations in Japanese patients.



Autor: Satoshi Katagiri, Masakazu Akahori, Yuri Sergeev, Kazutoshi Yoshitake, Kazuho Ikeo, Masaaki Furuno, Takaaki Hayashi, Mineo Kondo,

Fuente: http://plos.srce.hr/



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