Whole-exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities.

ABSTRACT:

Background

Microtia is a congenital malformation of the external ear and may occur as an isolated deformity or as part of a syndrome. Our previous study found a high correlation between microtia and thoracic deformities, thus, we propose that external ear and thorax development may be regulated by certain genes in common.

Methods

We performed exome sequencing on 10 families of sporadic microtia with thoracic abnormalities. We identified mutated genes under different models of inheritance, and checked them through Mouse Genome Informatics and association analysis.

Results

We identified 45 rare mutations, including 9 de novo mutations, 20 heterozygous mutations, 3 homozygous mutations, and 13 hemizygous mutations, of which 2 are likely to be causative. They are de novo

SUBMITTER: Yang M 

PROVIDER: S-EPMC8172194 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature