Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.

ABSTRACT: Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among 1.52 million individuals from six European populations. In this study, we identified 25 genes harboring protein-altering sequence variants with a strong deficit of homozygosity (10% or less of predicted homozygotes). Sequence variants in 12 of the genes cause Mendelian disease under a recessive mode of inheritance, two under a dominant mode, but variants in the remaining 11 have not been reported to cause disease. Sequence variants with a strong deficit of homozygosity are over-represented among genes essential for growth of human cell lines a

SUBMITTER: Oddsson A 

PROVIDER: S-EPMC10257723 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature