Microdeletion on Xq27.1 in a Chinese VACTERL-Like Family with Kidney and Anal Anomalies

作     者：LI Min ZHANG Yu Lan ZHANG Kai Li LI Ping Ping LYU Yu Han LIANG Ya Xin YU Yue LI Min;ZHANG Yu Lan;ZHANG Kai Li;LI Ping Ping;LYU Yu Han;LIANG Ya Xin;YU Yue

作者机构：Department of Gynecology and ObstetricsBeijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing HospitalBeijing 100730China The Key Laboratory of GeriatricsBeijing Institute of GeriatricsBeijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China 

出 版 物：《Biomedical and Environmental Sciences》 (生物医学与环境科学（英文版）)

年 卷 期：2024年第37卷第5期

页      面：503-510页

核心收录：

学科分类：100208[医学-临床检验诊断学] 1002[医学-临床医学] 100211[医学-妇产科学] 10[医学] 

基　　金：National High Level Hospital Clinical Research Funding(BJ-2018-204 BJ-2023-112) 

主　　题：Prenatal diagnosis VACTERL whole-genome sequencing whole-exome sequencing X-linked 

摘      要：Objective VATER/VACTERL-like association is associated with adverse pregnancy *** evidence of this disorder is *** this study,we aimed to provide genetic insights to improve the diagnosis of *** We have described a Chinese family in which four members were affected by renal defects or agenesis,anal atresia,and anovaginal fistula,which is consistent with the diagnosis of a VACTERL-like *** and genetic analyses were conducted using genome and exome *** Segregation analysis revealed the presence of a recessive X-linked microdeletion in two living affected individuals,harboring a 196–380 kb microdeletion on Xq27.1,which was identified by familial exome *** sequencing was performed on the affected male,confirming a-196 kb microdeletion in Xq27.1,which included a 28%loss of the CDR-1 *** family members were included in the co-segregation analysis,and only VACTERL-like cases with microdeletions were reported in *** These results suggest that the 196–380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like ***,further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association.