Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.

ABSTRACT:

Background

Gnathodiaphyseal dysplasia (GDD) is an ultrarare autosomal dominant bone dysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, frequent bone fractures at the young age, bowing of tubular bones, and diaphyseal sclerosis of long bones associated with generalized osteopenia. GDD is caused by point mutations in anoctamin-5 (ANO5) on chromosome 11p14.3. For the past few years, next generation sequencing (NGS) technology has facilitated the discovery of causative variants in genetically heterogeneous diseases.

Methods

In this study, exome sequencing (ES) was performed using the DNA sample of the proband. Family histories and clinical information were collected through comprehensive medical examination and genetic counseling.

Results

E

SUBMITTER: Yassaee VR 

PROVIDER: S-EPMC9482395 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature