Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant

Rare Pub Date : 2023-12-13 DOI:10.1016/j.rare.2023.100017

Megumi Leung , Meredith Sanchez-Castillo , Newell Belnap , Marcus Naymik , Anna Bonfitto , Jennifer Sloan , Katie Hassett , Wayne M. Jepsen , Aravind Sankaramoorthy , Tracy Murray Stewart , Jackson R. Foley , Sampathkumar Rangasamy , Matthew J. Huentelman , Vinodh Narayanan , Keri Ramsey

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Abstract

Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay and seizures. Whole genome sequencing (WGS) identified a mutation in the spermine synthase (SMS) gene (c.746 A>G, p.Tyr249Cys) in a male with kyphosis, seizures, and osteoporosis. His phenotype is unique in that he does not have intellectual disability (ID) but does have a mild learning disability. This case demonstrates a milder presentation of SRS and expands the phenotype beyond the reported literature.

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斯奈德-罗宾逊综合征伴有学习障碍、癫痫和骨质疏松症：一种新型 SMS 基因变异

Snyder-Robinson综合征(SRS)是一种罕见的x连锁隐性遗传病，其临床特征包括轻度至重度智力残疾、高渗症、类马氏体质、面部不对称、骨质疏松症、发育迟缓和癫痫发作。全基因组测序(WGS)鉴定出精胺合成酶(SMS)基因突变(c.746)a >G, p.Tyr249Cys)，男性患有后凸、癫痫和骨质疏松症。他的表型是独特的，因为他没有智力障碍(ID)，但有轻微的学习障碍。本病例表现出较轻的SRS表现，并扩展了文献报道的表型。

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