Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

被引：95

作者：

Wang, Hui ^{[1
,7
]}

den Hollander, Anneke I. ^{[10
,11
]}

Moayedi, Yalda ^{[3
]}

Abulimiti, Abuduaini ^{[1
]}

Li, Yumei ^{[1
,7
]}

Collin, Rob W. J. ^{[10
]}

Hoyng, Carel B. ^{[11
]}

Lopez, Irma ^{[12
]}

Bray, Molly ^{[8
]}

Lewis, Richard Alan ^{[1
,2
,9
]}

Lupski, James R. ^{[1
,5
,9
]}

Mardon, Graeme ^{[1
,2
,3
,4
,6
]}

Koenekoop, Robert K.

Chen, Rui ^{[1
,6
,7
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA

[3] Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA

[4] Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA

[5] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA

[6] Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA

[7] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[8] Baylor Coll Med, Childrens Nutr Res Ctr, Houston, TX 77030 USA

[9] Baylor Coll Med, Texas Childrens Hosp, Houston, TX 77030 USA

[10] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[11] Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, Nijmegen Ctr Mol Life Sci, NL-6500 HB Nijmegen, Netherlands

[12] McGill Univ, Ctr Hlth, McGill Ocular Genet Ctr, Montreal, PQ H3H 1P3, Canada

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2009年 / 84卷 / 03期

关键词：

SEVERE RETINAL DYSTROPHY; BARDET-BIEDL-SYNDROME; GENE-MUTATIONS; MESSENGER-RNA; PROTEIN; IDENTIFICATION; DISEASE; CEP290; CRX; TRUNCATION;

D O I：

10.1016/j.ajhg.2009.02.005

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are the most common hereditary causes of visual impairment in infants and children. Using homozygosity mapping, we narrowed down the critical region of the LCA3 locus to 3.8 Mb between markers D14S1022 and D14S1005. By direct Sanger sequencing of all genes within this region, we found a homozygous nonsense mutation in the SPATA7 gene in Saudi Arabian family KKESH-060. Three other loss-of-function mutations were subsequently discovered in patients with LCA or juvenile RP from distinct populations. Furthermore, we determined that Spata7 is expressed in the mature mouse retina. Our findings reveal another human visual-disease gene that causes LCA and juvenile RP.

引用

页码：380 / 387

页数：8

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