Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, cafe-au-lait spots, and metabolic abnormality.

ABSTRACT:

Background

TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities (MIM 619243), is a rare autosomal dominant genetic disease mainly characterized by facial dysmorphism, developmental delay/intellectual disability (DD/ID), speech and language delay, fine and motor delay, attention deficit and hyperactivity disorder (ADHD), and variable behavioral abnormalities. It is caused by heterozygous variant in the TNRC6B gene (NM_001162501.2, MIM 610740), which encodes the trinucleotide repeat-containing adaptor 6B protein.

Methods

In this study, two Chinese patients with TNRC6B deficiency syndrome were recruited, and genomic DNA extraction from peripheral blood leukocytes of these parents and their family members was extracted for

SUBMITTER: Yang Q 

PROVIDER: S-EPMC10895380 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature