PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.

ABSTRACT:

Background

The discovery of coding variants in genes that confer risk of intellectual disability (ID) is an important step toward understanding the pathophysiology of this common developmental disability.

Methods

Homozygosity mapping, whole-exome sequencing, and cosegregation analyses were used to identify gene variants responsible for syndromic ID with autistic features in two independent consanguineous families from the Arabian Peninsula. For in vivo functional studies of the implicated gene's function in cognition, Drosophila melanogaster and mice with targeted interference of the orthologous gene were used. Behavioral, electrophysiological, and structural magnetic resonance imaging analyses were conducted for phenotypic testing.

Results

Homozygous premature termin

SUBMITTER: Al-Amri AH 

PROVIDER: S-EPMC9302898 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature