Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.

ABSTRACT:

Purpose

To elucidate the novel molecular cause in families with a new autosomal recessive neurodevelopmental disorder.

Methods

A combination of exome sequencing and gene matching tools was used to identify pathogenic variants in 17 individuals. Quantitative reverse transcription polymerase chain reaction (RT-qPCR) and subcellular localization studies were used to characterize gene expression profile and localization.

Results

Biallelic variants in the TMEM222 gene were identified in 17 individuals from nine unrelated families, presenting with intellectual disability and variable other features, such as aggressive behavior, shy character, body tremors, decreased muscle mass in the lower extremities, and mild hypotonia. We found relatively high TMEM222 expression levels

SUBMITTER: Polla DL 

PROVIDER: S-EPMC8725574 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature