Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.

ABSTRACT:

Purpose

In this study, we aimed to characterize the clinical phenotype of a SHANK1-related disorder and define the functional consequences of SHANK1 truncating variants.

Methods

Exome sequencing (ES) was performed for six individuals who presented with neurodevelopmental disorders. Individuals were ascertained with the use of GeneMatcher and Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources (DECIPHER). We evaluated potential nonsense-mediated decay (NMD) of two variants by making knock-in cell lines of endogenous truncated SHANK1, and expressed the truncated SHANK1 complementary DNA (cDNA) in HEK293 cells and cultured hippocampal neurons to examine the proteins.

Results

ES detected de novo truncating variants in SHANK1 in six individual

SUBMITTER: May HJ 

PROVIDER: S-EPMC8487955 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature