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

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

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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.

Prenatal diagnosisVACTERLwhole-genome sequencingwhole-exome sequencingX-linked

LI Min、ZHANG Yu Lan、ZHANG Kai Li、LI Ping Ping、LYU Yu Han、LIANG Ya Xin、YU Yue

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Department of Gynecology and Obstetrics,Beijing Hospital,National Center of Gerontology,Institute of Geriatric Medicine,Chinese Academy of Medical Sciences,Beijing 100730,China

Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing Hospital,Beijing 100730,China

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

National High Level Hospital Clinical Research Funding

BJ-2018-204BJ-2023-112

2024

10.3967/bes2024.055

生物医学与环境科学(英文版)
中国疾病预防控制中心

生物医学与环境科学(英文版)

CSTPCD
影响因子：0.76
ISSN：0895-3988
年,卷(期)：2024.37(5)