High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

ABSTRACT: Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and economic burden. A definitive molecular diagnosis could not be achieved in these children previously, as infrastructures and access to sophisticated diagnostic options were limited. We studied the cause of neurogenetic disease in 246 children from 190 consanguineous families recruited in three Turkish hospitals between 2016 and 2020. All patients underwent deep phenotyping and trio whole exome sequencing, and data were integrated in advanced international bioinformatics platforms. We detected causative variants in 119 known disease genes in 72% of families. Due to overlapping

SUBMITTER: Hiz Kurul S 

PROVIDER: S-EPMC9128813 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature