Huang Huiying, Lai Baoling, Wu Wei, Chen Huishuang, Kan Lijuan, Ou Tong
Medical Laboratory, the Third Affiliated Hospital of Shenzhen University, Shenzhen, China.
Medical Laboratory Center, Shenzhen Luohu Hospital Group, Shenzhen, China.
Ann Clin Lab Sci. 2025 Jul;55(4):612-617.
Au-Kline syndrome is a rare disease of major pediatric concern, characterized by intellectual disability, facial deformities, heart defects, and abnormal development of connective tissue and bone. Loss-of-function variants of hnRNPK gene have been proven to be significantly related to Au-Kline syndrome. In this report, a novel hnRNPK gene frameshift variant [NM_031263.4:c.1074dupG:p.M359Dfs*4] was found in a 12-week-old fetus with ultrasound abnormalities including cystic hygroma of the neck, bilateral branchial cysts, and a megabladder. This case report describes a novel frameshift duplication variant of hnRNPK and enriches the mutation database of this gene. Moreover, cystic hygroma of the neck and bilateral branchial cysts on prenatal ultrasound were first discovered in patients with Au-Kline syndrome, which provides a reference for the subsequent prenatal diagnosis of Au-Kline syndrome.
奥-克莱恩综合征是一种主要引起儿科关注的罕见疾病，其特征为智力残疾、面部畸形、心脏缺陷以及结缔组织和骨骼发育异常。已证实hnRNPK基因的功能丧失变异与奥-克莱恩综合征显著相关。在本报告中，在一名12周大的胎儿中发现了一种新的hnRNPK基因移码变异[NM_031263.4:c.1074dupG:p.M359Dfs*4]，该胎儿的超声检查存在异常，包括颈部水囊瘤、双侧鳃裂囊肿和巨膀胱。本病例报告描述了一种新的hnRNPK移码重复变异，并丰富了该基因的突变数据库。此外，产前超声检查发现的颈部水囊瘤和双侧鳃裂囊肿首次出现在奥-克莱恩综合征患者中，这为后续奥-克莱恩综合征的产前诊断提供了参考。
