Snyder-Robinson syndrome (SRS) is an extremely rare X-linked intellectual disability syndrome (MRXSSR; MIM #309583). The main clinical features of SRS include psychomotor delay, hypotonia, and asthenic-type body habitus – reduced body weight and bone abnormalities (osteoporosis, fractures, kyphoscoliosis). We report a case of SRS with a hemizygous missense variant in the SMS gene,c.334C#x3e;G (p.Pro112Ala), in a 4-year-old boy, who initially developed hypotonia, delayed motor skills, and subsequently epilepsy. This variant in SMS was found to be de novo. To the best of our knowledge, this novel SMS gene variant has never been previously reported in disease-related variation databases, such as ClinVar or HGMD.
Mol Syndromol

中文翻译：

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精胺合酶 (SMS) 基因的新型半合错义变体导致四岁男孩的斯奈德-罗宾逊综合征

Snyder-Robinson 综合征 (SRS) 是一种极为罕见的 X 连锁智力障碍综合征 (MRXSSR; MIM #309583)。SRS 的主要临床特征包括精神运动延迟、肌张力减退和虚弱型体型——体重减轻和骨骼异常（骨质疏松症、骨折、脊柱后凸）。我们报告了一例在SMS基因 c.334C#x3e;G (p.Pro112Ala) 中出现半合子错义变异的 SRS 病例，该病例发生在一名 4 岁男孩身上，该男孩最初出现张力减退、运动技能延迟，随后出现癫痫. SMS中的这个变体被发现是从头开始的。据我们所知，这种新型SMS基因变异以前从未在疾病相关变异数据库（如 ClinVar 或 HGMD）中报道过。
摩尔综合征