Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report

Huiqin Xue; Qiaoyin Tang; Yu Feng; Chenyue Zhao; Ke Xu; Weiyue Gu; Zhaoyu Xue; Xinyan Li; Jinsong Jiang; Hongyong Lu; Xiayu Sun; Jianrui Wu; Guizhi Cao

doi:10.3389/fgene.2023.1037345

Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report

Front Genet. 2023 Jul 12:14:1037345. doi: 10.3389/fgene.2023.1037345. eCollection 2023.

Authors

Huiqin Xue¹, Qiaoyin Tang², Yu Feng², Chenyue Zhao², Ke Xu³, Weiyue Gu³, Zhaoyu Xue², Xinyan Li⁴, Jinsong Jiang², Hongyong Lu¹, Xiayu Sun¹, Jianrui Wu¹, Guizhi Cao¹

Affiliations

¹ Department of Cytogenetic Laboratory, Children's Hospital of Shanxi, Women Health Center of Shanxi, Affiliated Hospital of Shanxi Medical University, Taiyuan, China.
² Department of Paediatric Medicine, Shanxi Medical University, Taiyuan, China.
³ Beijing Chigene Translational Medicine Research Center Co., Ltd., Beijing, China.
⁴ Department of Obstetrics and Gynecology, Children's Hospital of Shanxi, Women Health Center of Shanxi, Affiliated Hospital of Shanxi Medical University, Taiyuan, China.

Abstract

A fetal clenched hand with overlapping fingers is more common in aneuploidy syndrome and was not well-documented in MED12 deficiency. This study reports the clinical and genetic findings of three affected siblings from a Chinese family. The chromosome karyotype analysis diagram shows that karyotypes of the three children were normal. Trio whole-exome sequencing and Sanger sequencing verification found that there was a MED12 R296Q variant in normal mothers and their two offspring. A pattern of clenched hand with overlapping fingers (clinodactyly) and clubfoot was found in all the three affected siblings by three-dimensional ultrasound. The discovery of this case shows that even if the chromosome karyotype is normal, comprehensive prenatal genetic diagnosis is required when the ultrasound results show a clenched hand with clinodactyly and clubfoot symptoms.

Keywords: MED12; case report; clenched hand; clubfoot; overlapping fingers.

Publication types

Case Reports

Grants and funding

This study was supported by the Key Laboratory of Medical Genetics research Committee of Shanxi Province, “Four Batch” Scientific and Technological Innovation Project of Rejuvenating Medicine in 2020” (2020SYS24), the Department of Resource and Social Security of Shanxi Province: Fund Program for the Scientific Activities of Selected Returned Overseas Professionals in Shanxi Province (No. 201919), and the National Population and Reproductive Health Science Data Center Program (No. 2005DKA32408).