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...

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Hlavní autoři:	Heng Jiang, Jingjing Mou, Qiwei Zhao, Long Ding, Yu Wang, Xiaohong Guo, Guohua Yang
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2025-07-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	MBD5 MRD1 mRNA splicing abnormalities neurodevelopmental disorder
On-line přístup:	https://doi.org/10.1002/mgg3.70121
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