Child Health Care Department, Children's Hospital of Fudan University, Shanghai, China.
Pediatric Department, Binzhou People's Hospital, Binzhou, Shandong, China.
BMC Med Genomics. 2023 Feb 9;16(1):22. doi: 10.1186/s12920-023-01448-4.
Lamb-Shaffer syndrome (LAMSHF, MIM 616,803) is a rare neurodevelopmental disorder due to haploinsufficiency of SOX5. Furthermore, studies about the clinical features of LAMSHF patients with same allele of c.1477C > T (p. R493*) are very limited.
We analyzed the phenotypes of one of our cases and two previously reported cases with c.1477C > T (p. R493*), and reviewed the correlating literature. A de novo heterozygous variation c.1477C > T (p. R493*) in SOX5 was identified in a 4 years and 2 months old boy with global development delay by trio-based whole exome sequencing. We compared our case and previously 2 cases reported with recurrent variation, the overlapping clinical features are global developmental delay or intellectual disability, language delay and scoliosis, but their other clinical characteristics are different.
This study suggests that the clinical features of LAMSHF patients with recurrent variations in the SOX5 gene are different. It is suggested that the LAMSHF-related SOX5 gene should be screened and included as one of the candidate genes for neurodevelopmental disorders of unknown etiology.
Lamb-Shaffer 综合征（LAMSHF，MIM 616,803）是一种由于 SOX5 单倍剂量不足引起的罕见神经发育障碍。此外，关于携带相同等位基因 c.1477C>T（p. R493*）的 LAMSHF 患者的临床特征研究非常有限。
我们分析了我们的一个病例和另外两个之前报道的携带 c.1477C>T（p. R493*）的病例的表型，并回顾了相关文献。通过基于 trio 的全外显子组测序，在一名 4 岁 2 个月大的男孩中发现了 SOX5 基因的杂合性新生变异 c.1477C>T（p. R493*）。我们比较了我们的病例和之前报道的携带重复变异的 2 个病例，重叠的临床特征是全面发育迟缓或智力残疾、语言迟缓伴脊柱侧凸，但他们的其他临床特征不同。
本研究表明，携带 SOX5 基因重复变异的 LAMSHF 患者的临床特征不同。提示应筛查与 LAMSHF 相关的 SOX5 基因，并将其作为病因不明的神经发育障碍的候选基因之一。
