文献类型：期刊文献

英文题名：Familial and genetic association with neurodevelopmental disorders caused by a heterozygous variant in the SRRM2 gene

作者：Zhang, Tao[1,2];Xu, Lei[2,3];Zhu, Hongdan[1,2];Ying, Yuyi[1,2];Ding, Jinlong[1,2];Ding, Haigang[1,2];Shi, Xiaoliang[1,2];He, Yao[1,2];Jin, Xin[2,3];Xia, Guiyu[1,2]

机构：[1]Shaoxing Matern & Child Hlth Care Hosp, Shaoxing, Zhejiang, Peoples R China;[2]Shaoxing Univ, Obstet & Gynecol Hosp, Shaoxing 312000, Zhejiang, Peoples R China;[3]Shaoxing Univ, Shaoxing, Zhejiang, Peoples R China

年份：2023

卷号：14

外文期刊名：FRONTIERS IN ENDOCRINOLOGY

收录：SCI-EXPANDED(收录号：WOS:001053833000001)、、WOS

基金：We would like to thank the patient and his parents for agreeing to donate their personal data to our study and have these been published.r This work was supported by the Science Technology Department of Zhejiang Province, China (TGY23H040011, TGY23H040012, LGF21H040003, LGF21H040004, LGF22H180043, GF22H186714, LGF18H160014) and the Health Commission of Zhejiang Province, China (2023KY368, 2022RC277, 2022KY412, 2022KY413, 2021KY1156); the Science Technology Department of Shaoxing, China (2022A14006, 2022KY036, 2022KY038, 2020A13032, 2020A13034, 2020A13035, 2020A13037, 2020A13039, 2021KY1154, 2021KY1157), the Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China. (2022YF004, 2021YF007), the opening foundation of the State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, the First Affiliated Hospital, Zhejiang University School of Medicine, grant NO.SKLID2023KF03.

语种：英文

外文关键词：neurodevelopmental disorders; SRRM2 gene; whole exome sequencing; 3D structure; prenatal diagnosis

外文摘要：Background: Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development and function, characterized by an inability to reach cognitive, emotional, and motor developmental milestones. The pathology of NDDs is complex. A recent study found that variants in the SRRM2 gene cause NDDs. However, genetic conditions play the most important role in the etiology of NDD. The genetic causes of NDD are extremely heterogeneous, leading to certain challenges in clinical diagnosis.Methods: A pregnant woman with congenital intelligence disorder came to our hospital for genetic diagnosis to predict the status of her fetus. Her mother and a brother also suffer from congenital intelligence disorder. She has a daughter with speech delay. Whole exome sequencing was used to identify a mutation (c.1415C>G) in the SRRM2 gene of this family that resulted in a change in the 472nd amino acid residue of the SRRM2 protein from serine to terminated.Conclusion: We report a family with an autosomal dominant genetic disorder caused by variants in the SRRM2 gene causing NDDs. Prenatal diagnosis can help patients with this genetic disorder to have healthy offspring.