Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy
Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy
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DOI：
10.4103/0974-9233.171779
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发表时间：
2016-01-01
影响因子：
0.6
通讯作者：
Kozak, Igor
中科院分区：
文献类型：
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作者：
Abu Safieh, Leen;Al-Otaibi, Humoud M.;Kozak, Igor
报道两名具有Leber先天性黑朦（LCA）和Alstrom综合征临床特征的沙特儿童的新突变。案例报告。病例1是一名LCA的儿童，其表型特征包括眼指征、双侧眼球内陷、眼球震颤、苍白椎间盘和视网膜改变。对GUCY2D编码序列进行直接测序，发现一个影响高度保守位置的错义突变（c.743C>T; p.S248 L）。病例2描述了一个女孩，有明显的眼球震颤、畏光和双眼视网膜改变，手指短而粗，在远端指骨处逐渐变细。两眼视网膜电图均不可记录。她有左耳助听器，面部中部发育不全，双侧眼内陷和胰岛素依赖型糖尿病。候选基因突变筛选显示ALMS1基因突变（c.8441C> a, p.S2814*）。两个新的突变导致表型LCA和阿尔斯特罗姆综合征在沙特阿拉伯患者从近亲扩大先天性视网膜营养不良症的基因型谱。
To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alstrom syndrome. Case reports. Case 1 was a child with phenotypic features of LCA including oculodigital sign, bilateral enophthalmos, nystagmus, pale disc, and retinal changes. Direct sequencing of the coding sequence of GUCY2D revealed a missense mutation affecting highly conserved position (c.743C>T; p.S248 L). Case 2 describes a girl with marked nystagmus, photophobia, and retinal changes in both eyes with short and stubby fingers tapering at the distal phalanges. The electroretinograms were nonrecordable in each eye. She had a hearing aid in the left ear, mid-facial hypoplasia, bilateral enophthalmos, and insulin dependent diabetes. Mutation screening of candidates genes revealed a pathogenic mutation in ALMS1 gene (c.8441C>A, p.S2814*). Two novel mutations causing phenotypic LCA and Alstrom syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies.