Identification of a novel MYO1D variant associated with laterality defects,congenital heart diseases,and sperm defects in humans

作     者：Zhuangzhuang Yuan Xin Zhu Xiaohui Xie Chenyu Wang Heng Gu Junlin Yang Liangliang Fan Rong Xiang Yifeng Yang Zhiping Tan Zhuangzhuang Yuan;Xin Zhu;Xiaohui Xie;Chenyu Wang;Heng Gu;Junlin Yang;Liangliang Fan;Rong Xiang;Yifeng Yang;Zhiping Tan

作者机构：Department of Cardiovascular SurgeryThe Second Xiangya Hospital of Central South UniversityChangsha410011China Clinical Center for Gene Diagnosis and TherapyThe Second Xiangya Hospital of Central South UniversityChangsha410011China Department of Cell BiologySchool of Life SciencesCentral South UniversityChangsha410013China Department of Gynecology and ObstetricsXiangya Hospital of Central South UniversityChangsha410008China 

出 版 物：《Frontiers of Medicine》 (医学前沿（英文版）)

年 卷 期：2024年第18卷第3期

页      面：558-564页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：supported by the National Natural Science Foundation of China(No.81970268) the Natural Science Foundation of Hunan Province(No.2023JJ30781) the Graduate Student Scientific Research Innovation Project of Hunan Province(No.CX20220315) 

主　　题：MYO1D laterality defect congenital heart disease sperm defect β-actin SPAG6 

摘      要：The establishment of left–right asymmetry is a fundamental process in animal *** with this process leads to a range of disorders collectively known as laterality defects,which manifest as abnormal arrangements of visceral *** patients with laterality defects,congenital heart diseases(CHD)are *** multiple model organisms,extant research has established that myosin-Id(MYO1D)deficiency causes laterality *** study investigated over a hundred cases and identified a novel biallelic variant of MYO1D(NM_015194:c.1531GA;p.D511N)in a consanguineous family with complex CHD and laterality *** examination of the proband revealed asthenoteratozoospermia and shortened ***,the effects of the D511N variant and another known MYO1D variant(NM_015194:c.2293CT;p.P765S)were *** assessment showed that both enhance the interaction withβ-actin and ***,this study revealed the genetic heterogeneity of this rare disease and found that MYO1D variants are correlated with laterality defects and CHD in ***,this research established a connection between sperm defects and MYO1D *** offers guidance for exploring infertility and reproductive health *** findings provide a critical basis for advancing personalized medicine and genetic counseling.