De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.

ABSTRACT:

Objective

To determine the potential disease association between variants in LMBRD2 and complex multisystem neurological and developmental delay phenotypes.

Methods

Here we describe a series of de novo missense variants in LMBRD2 in 10 unrelated individuals with overlapping features. Exome sequencing or genome sequencing was performed on all individuals, and the cohort was assembled through GeneMatcher.

Results

LMBRD2 encodes an evolutionary ancient and widely expressed transmembrane protein with no known disease association, although two paralogues are involved in developmental and metabolic disorders. Exome or genome sequencing revealed rare de novo LMBRD2 missense variants in 10 individuals with developmental delay, intellectual disabili

SUBMITTER: Malhotra A 

PROVIDER: S-EPMC11431178 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature