A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations. Issue 8 (12th July 2022)

• Record Type: Journal Article
• Authors: Zhu, Mianmian; Wang, Yihong; Guan, Lijie; Lu, Chaosheng; Sun, Rongyue; Chen, Yuan; Shi, Jiamin; Zhu, Yanying; Wang, Dan
• Is Part Of: Journal of clinical laboratory analysis. Volume 36:Issue 8(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-07-12
• Subjects: 2q deletion -- de novo -- HOXD13 -- microdeletion -- multiple congenital anomalies; Diagnosis, Laboratory -- Periodicals; Medical laboratory technology -- Periodicals; 616
• DOI: 10.1002/jcla.24602
• Languages: English
• ISSNs: 0887-8013

Abstract

Abstract: 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. Abstract : Terminal or interstitial deletion of chromosome 2q is rarely reported but clinically significant. There was an interstitial deletion of 2q24.3‐q32.1 in the fetus. WES and CNV‐seq revealed a de novo 18.46Mb deletion at 2q24.3‐q32.1, a region involving 94 protein‐coding genes, including HOXD13, MAP3K20, DLX1, DLX2, SCN2A and SCN1A .