Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
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DOI：
10.1371/journal.pone.0108721
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Iwata T
中科院分区：
文献类型：
--
作者：
Katagiri S;Akahori M;Sergeev Y;Yoshitake K;Ikeo K;Furuno M;Hayashi T;Kondo M;Ueno S;Tsunoda K;Shinoda K;Kuniyoshi K;Tsurusaki Y;Matsumoto N;Tsuneoka H;Iwata T
本研究的目的是调查日本人群中常染色体隐性遗传性视网膜色素变性（arRP）的常见致病基因突变。本研究共招募了99例非综合征和无关arRP或散发性RP（spRP）日本患者，并进行眼科检查以诊断RP。对其中30例RP患者进行全外显子组测序分析，对另外69例RP患者进行CNGA 1全外显子直接测序筛查。对30名arRP/spRP患者的全外显子组测序确定了8名患者的CNGA 1（4名患者），EYS（3名患者）和SAG（1名患者）的致病基因突变，以及5名患者的USH 2A（2名患者），EYS（1名患者），TULP 1（1名患者）和C2 orf 71（1名患者）的潜在致病基因变体。对另外69名arRP/spRP患者进行CNGA 1基因突变筛查，发现1名患者存在纯合突变。这是首次在日本arRP患者中发现CNGA 1突变。CNGA 1基因突变率为5.1%（5/99例）。CNGA 1突变是日本患者中最常见的arRP突变之一。
The purpose of this study was to investigate frequent disease-causing gene mutations in autosomal recessive retinitis pigmentosa (arRP) in the Japanese population. 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. 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. 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.
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影响因子：
3.7
作者：
Hosono K;Ishigami C;Takahashi M;Park DH;Hirami Y;Nakanishi H;Ueno S;Yokoi T;Hikoya A;Fujita T;Zhao Y;Nishina S;Shin JP;Kim IT;Yamamoto S;Azuma N;Terasaki H;Sato M;Kondo M;Minoshima S;Hotta Y
通讯作者：
Hotta Y
影响因子：
3.7
作者：
González-del Pozo M;Borrego S;Barragán I;Pieras JI;Santoyo J;Matamala N;Naranjo B;Dopazo J;Antiñolo G
通讯作者：
Antiñolo G
影响因子：
56.9
作者：
KAJIWARA, K;BERSON, EL;DRYJA, TP
通讯作者：
DRYJA, TP
DOI：
10.1007/bf01899733
发表时间：
1992-06-01
期刊：
JAPANESE JOURNAL OF HUMAN GENETICS
影响因子：
--
作者：
FUJIKI, K;HOTTA, Y;KANAI, A
通讯作者：
KANAI, A
影响因子：
3.9
作者：
Audo, Isabelle;Sahel, Jose-Alain;Zeitz, Christina
通讯作者：
Zeitz, Christina