Lankenau Institute for Medical Research, Wynnewood, PA, USA.
EMBO Mol Med. 2023 Nov 8;15(11):e18506. doi: 10.15252/emmm.202318506. Epub 2023 Sep 15.
Snyder-Robinson syndrome (SRS) is a rare genetic disorder characterized by intellectual disability and delayed development beginning early in childhood. It was first described in a single family in 1969 as a sex-linked disorder (Snyder & Robinson, 1969) and has since been only identified in less than 100 individuals worldwide. Inherited in an X-linked recessive pattern, SRS has only been identified in males thus far. Snyder-Robinson syndrome primarily affects the nervous system and skeletal tissues and is caused by loss-of-function mutations in the gene encoding spermine synthase (SMS), a polyamine biosynthesis enzyme. Affected males display a collection of clinical features including intellectual disability ranging from mild to profound, speech and vision impairment, osteoporosis, hypotonia, and increasing loss of muscle tissue with age, kyphoscoliosis, seizures, and distinctive facial features including a prominent lower lip and facial asymmetry. Currently, there is no cure or treatment for this debilitating disorder aside from symptom management.
Snyder-Robinson 综合征（SRS）是一种罕见的遗传性疾病，其特征为智力障碍和儿童早期开始的发育迟缓。它于 1969 年在一个单一的家庭中首次被描述为性连锁疾病（Snyder 和 Robinson，1969），此后仅在全球不到 100 个人中被发现。SRS 以 X 连锁隐性遗传模式遗传，迄今为止仅在男性中被发现。Snyder-Robinson 综合征主要影响神经系统和骨骼组织，是由于编码精脒合酶（SMS）的基因发生功能丧失突变引起的，SMS 是一种多胺生物合成酶。受影响的男性表现出一系列临床特征，包括从轻度到重度的智力障碍、言语和视力障碍、骨质疏松症、低张力和随着年龄的增长肌肉组织逐渐丧失、脊柱侧凸、癫痫发作以及独特的面部特征，包括突出的下唇和面部不对称。目前，除了症状管理之外，这种使人衰弱的疾病还没有治愈或治疗方法。
