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...

Descrición completa

Detalles Bibliográficos

Principais autores:	Heng Jiang, Jingjing Mou, Qiwei Zhao, Long Ding, Yu Wang, Xiaohong Guo, Guohua Yang
Formato:	Artigo
Idioma:	Inglês
Publicado:	Wiley 2025-07-01
Series:	Molecular Genetics & Genomic Medicine
Assuntos:	MBD5 MRD1 mRNA splicing abnormalities neurodevelopmental disorder
Acceso en liña:	https://doi.org/10.1002/mgg3.70121
Tags:	Engadir etiqueta Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!