Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

ABSTRACT:

Background

Identifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona fide Mendelian phenotype has the potential to reveal novel genetic causes, which will further our understanding of early human development at a molecular level. Consanguineous families in which embryonic lethality segregates as a recessive Mendelian phenotype offer a unique opportunity for high throughput novel gene discovery as has been established for other recessive postnatal phenotypes.

Results

We have studied 24 eligible families using autozygosity mapping and whole-exome sequencing. In addition to revealing mutations in genes previously linked to embryonic lethality in severe cases, our approach revealed

SUBMITTER: Shamseldin HE 

PROVIDER: S-EPMC4491988 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature