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

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 ana...

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Bibliographic Details
Main Authors: Heng Jiang, Jingjing Mou, Qiwei Zhao, Long Ding, Yu Wang, Xiaohong Guo, Guohua Yang
Format: Article
Language:English
Published: Wiley 2025-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
MBD5
MRD1
mRNA splicing abnormalities
neurodevelopmental disorder
Online Access:https://doi.org/10.1002/mgg3.70121
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