Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas

Multiple osteochondromas (MO) is an autosomal dominant hereditary disorder, which typically manifests as skeletal dysplasia, mainly involving long bones and knees, ankles, elbows, wrists, shoulders, and pelvis. Previous studies have demonstrated that mutations in exostosin glycosyl transferase-1 (EX...

Full description

Saved in:
Bibliographic Details
Published in:Molecular syndromology 2021-04, Vol.12 (2), p.96-100
Main Authors: Wang, Chen-Yu, Yu, Fang, Jin, Jie-Yuan, He, Ji-Qiang, Fan, Liang-Liang, Tang, Ju-Yu, Xiang, Rong
Format: Article
Language:English
Subjects:
Short Report
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Multiple osteochondromas (MO) is an autosomal dominant hereditary disorder, which typically manifests as skeletal dysplasia, mainly involving long bones and knees, ankles, elbows, wrists, shoulders, and pelvis. Previous studies have demonstrated that mutations in exostosin glycosyl transferase-1 (EXT1) and exostosin glycosyl transferase-2 (EXT2) were the main cause of MO. In this study, we enrolled 2 families with MO. Sanger sequencing revealed 2 novel frameshift mutations – c.1432_1433insCCCCCCT; p.Lys479Profs*44 and c.1431_1431delC; p.S478PfsX10 – in the EXT1 gene detected in 2 families, respectively. Both novel mutations, located in the conserved domain of EXT1 and predicted to be disease causing by informatics programs, were absent in our 200 control cohorts and other public databases. Our study expanded the spectrum of EXT1 mutations and contributed to genetic diagnosis and counseling of patients with MO.
ISSN:1661-8769
1661-8777
DOI:10.1159/000512856