A Novel Missense Variant of Heterozygously Present in Split-Hand/Foot Malformation

Overview

Journal Biomed Res Int

Publisher Wiley

Specialties Biomedical Engineering
Biotechnology
General Medicine

Date 2020 Dec 9

PMID 33294441

Authors

Hao Geng

Dongdong Tang

Chuan Xu

Xiaojin He

Zhiguo Zhang

Affiliations

Soon will be listed here.

Abstract

Background: Split-hand/foot malformation (SHFM) is a severe congenital disability mainly characterized by the absence or hypoplasia of the central ray of the hand/foot. To date, several candidate genes associated with SHFM have been identified, including , , , , and . Herein, we report a novel variant of heterozygously present in affected members of a family with SHFM.

Methods: This study investigated a Chinese family, in which the proband and his son suffered from SHFM. The peripheral blood sample of the proband was used to perform whole-exome sequencing (WES) to explore the possible genetic causes of this disease. Postsequencing bioinformatic analyses and Sanger sequencing were conducted to verify the identified variants and parental origins on all family members in the pedigree.

Results: By postsequencing bioinformatic analyses and Sanger sequencing, we identified a novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of in this family that results in a substitution of methionine with isoleucine, which is probably associated with the occurrence of SHFM.

Conclusion: A novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of in SHFM was thus identified, which may enlarge the spectrum of known variants and also provide new approaches for genetic counselling of families with SHFM.

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