Abstract

Background

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.

Case presentation

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.

Conclusions

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.

Details

Title
Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review
Author
Guo-qing, Zhu; Dong, Ping; Dong-yun, Li; Chun-chun, Hu; Hui-ping, Li; Lu, Ping; Xue-xia, Pan; Lin-lin, He; Xu, Xiu; Xu, Qiong
Pages
1-6
Section
Case report
Publication year
2023
Publication date
2023
Publisher
BioMed Central
e-ISSN
1755-8794
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2777777926
Copyright
© 2023. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.