A Novel Intronic Mutation in MBD5 Results in Autosomal Dominant Intellectual Disability Type 1 due to Abnormal Splicing.

ABSTRACT:

Background

We identified a novel variant in MBD5 located within intron 6: c.114-13A>G (NM_018328.5) in a family with a patient presenting intellectual disability. This variant is hypothesized to be the etiological agent underlying the patient's condition.

Methods

We conducted an analysis of mRNA splicing within the patient and their relatives' blood samples via reverse transcription polymerase chain reaction (RT-PCR) to assess intronic mRNA splicing. Additionally, we employed a minigene vector construction approach to verify in vitro the splicing of mRNA containing the mutated fragment. Protein structure prediction analysis of the aberrant mRNA was performed using PyMOL software.

Results

The patient harbors a novel mutation in the MBD5 gene: c.114-13A>G. Analysis of t

SUBMITTER: Jiang H 

PROVIDER: S-EPMC12261026 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature