X连锁的精胺合酶基因（SMS）中的一个错义突变p.V132G会导致斯奈德-罗宾逊综合征。
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
作者信息
Becerra-Solano L E, Butler J, Castañeda-Cisneros G, McCloskey D E, Wang X, Pegg A E, Schwartz C E, Sánchez-Corona J, García-Ortiz J E
机构信息
División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Mexico.
出版信息
Am J Med Genet A. 2009 Mar;149A(3):328-35. doi: 10.1002/ajmg.a.32641.
Abstract
Snyder-Robinson syndrome (SRS, OMIM 309583) is a rare X-linked syndrome characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry. Linkage analysis localized the related gene to Xp21.3-p22.12, and a G-to-A transition at point +5 of intron 4 of the spermine synthase gene, which caused truncation of the SMS protein and loss of enzyme activity, was identified in the original family. Here we describe another family with Snyder-Robinson syndrome in two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome.
摘要
斯奈德-罗宾逊综合征（SRS，OMIM 309583）是一种罕见的X连锁综合征，其特征为智力发育迟缓、类马凡体型、骨骼缺陷、骨质疏松和面部不对称。连锁分析将相关基因定位到Xp21.3-p22.12，在最初的家系中发现精胺合酶基因第4内含子第+5位点发生了G到A的转换，导致SMS蛋白截短并丧失酶活性。在此，我们描述了另一个患有斯奈德-罗宾逊综合征的墨西哥兄弟家系，并在SMS基因外显子5中发现了一个新的突变（c.496T>G），证实了该基因与这种罕见的X连锁智力发育迟缓综合征有关。
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