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 

机构地区：[1]Department of Gynecology and Obstetrics,Beijing Hospital,National Center of Gerontology,Institute of Geriatric Medicine,Chinese Academy of Medical Sciences,Beijing 100730,China [2]Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing Hospital,Beijing 100730,China [3]The Key Laboratory of Geriatrics,Beijing Institute of Geriatrics,Beijing Hospital,National Center of Gerontology,Institute of Geriatric Medicine,Chinese Academy of Medical Sciences,Beijing 100730,China

出　　处：《Biomedical and Environmental Sciences》2024年第5期503-510,共8页生物医学与环境科学（英文版）

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

摘　　要：Objective VATER/VACTERL-like association is associated with adverse pregnancy outcomes.Genetic evidence of this disorder is sporadic.In this study,we aimed to provide genetic insights to improve the diagnosis of VACTERL.Methods 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 association.Pedigree and genetic analyses were conducted using genome and exome sequencing.Results 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.Genome sequencing was performed on the affected male,confirming a-196 kb microdeletion in Xq27.1,which included a 28%loss of the CDR-1 gene.Four family members were included in the co-segregation analysis,and only VACTERL-like cases with microdeletions were reported in X27.1.Conclusion These results suggest that the 196–380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like association.However,further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association.

关 键 词：Prenatal diagnosis VACTERL whole-genome sequencing whole-exome sequencing X-LINKED 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]