Leung Megumi, Sanchez-Castillo Meredith, Belnap Newell, Naymik Marcus, Bonfitto Anna, Sloan Jennifer, Hassett Katie, Jepsen Wayne M, Sankaramoorthy Aravind, Stewart Tracy Murray, Foley Jackson R, Rangasamy Sampathkumar, Huentelman Matthew J, Narayanan Vinodh, Ramsey Keri
Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.
Rare. 2024;2. doi: 10.1016/j.rare.2023.100017. Epub 2023 Dec 13.
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 () 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.
斯奈德-罗宾逊综合征（SRS）是一种罕见的X连锁隐性疾病，其特征是一系列临床特征，包括轻度至重度智力残疾、张力亢进、类马凡体型、面部不对称、骨质疏松、发育迟缓及癫痫发作。全基因组测序（WGS）在一名患有脊柱后凸、癫痫发作和骨质疏松症的男性中发现了精胺合酶（）基因的一个突变（c.746 A>G，p.Tyr249Cys）。他的表型独特之处在于他没有智力残疾（ID），但有轻度学习障碍。该病例展示了SRS的一种较轻微表现，并扩展了已报道文献之外的表型。
