Open AccessA novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations
Author(s) -
Zhu Mianmian,
Wang Yihong,
Guan Lijie,
Lu Chaosheng,
Sun Rongyue,
Chen Yuan,
Shi Jiamin,
Zhu Yanying,
Wang Dan
Publication year - 2022
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.24602
Subject(s) - genetics , chromosome , biology , congenital malformations , computational biology , medicine , gene , pregnancy
Background Terminal or interstitial deletion of chromosome 2q is rarely reported but clinically significant, which can result in developmental malformations and psychomotor retardation in humans. In the present study, we analyzed this deletion to comprehensively clarify the relationship between phenotype and microdeletion region. Methods We collected clinical records of the fetus and summarized patient symptoms. Subsequently, genomic DNA was extracted from fetal tissue or peripheral blood collected from parents. In addition, whole‐exome sequencing (WES) and copy number variation sequencing (CNV‐seq) were performed. Results The fetus presented a previously unreported interstitial deletion of 2q24.3‐q32.1. WES and CNV‐seq revealed a de novo 18.46 Mb deletion at 2q24.3‐q32.1, a region involving 94 protein‐coding genes, including HOXD13, MAP3K20, DLX1, DLX2, SCN2A , and SCN1A . The fetus had upper and lower limb malformations, including camptodactyly and syndactyly, along with congenital cardiac defects. Conclusion Herein, we report a fetus with a novel microdeletion of chromosome 2q24.3‐q32.1, likely a heterozygous pathogenic variant. Haploinsufficiency of HOXD13 might be related to limb deformity in the fetus.