Identification of a novel nonsense homozygous mutation of LINS1 gene in two sisters with intellectual disability, schizophrenia, and anxiety.

Abstract excerpt

BACKGROUND: LINS1 encodes the lines homolog 1 protein that contains the Drosophila lines homologous domain. LINS1 mutations cause a rare recessive form of intellectual disability. So far, eight LINS1 mutations were reported in the literature. METHODS: We conducted a whole-genome sequencing analysis for a family with two sisters diagnosed with moderate intellectual disability, schizophrenia, and anxiety. RESULTS:...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Anxiety
• Share to Anxiety Disorders
• Share to Codon, Nonsense