Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

ABSTRACT:

Background

Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MRD21 is caused by mutations in CCCTC-binding factor (CTCF) and this was established through only four unrelated cases, two of which had frameshift mutations. CTCF is a master transcriptional regulator that controls chromatin structure and may serve as insulator and transcriptional activator and repressor.

Case presentation

This study presents, clinically and molecularly, an Emirati patient with de novo frameshift mutation in CTCF. This novel mutation was uncovered using whole exome sequencing and was confirmed by Sanger sequencing in the trio. In silico analys

SUBMITTER: Bastaki F 

PROVIDER: S-EPMC5472882 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature