Case report: Whole exome sequencing reveals a novel splicing variant of ANKRD17 gene in a Chinese male juvenile with developmental delay and transient tic disorder

BackgroundThe Ankyrin Repeat Domain Containing Protein 17 (ANKRD17, OMIM:615929) gene is a protein-coding gene associated with diseases such as Chopra-Amiel-Gordon Syndrome and Non-Specific Syndromic Intellectual Disability. The protein encoded by ANKRD17 gene belongs to the ankyrin repeat-containin...

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Published in:	Frontiers in Genetics
Main Authors:	Jing Chen, Shuo Yang, He Wang, Hongjing Wang, Yuanyuan Xiao, Shanling Liu
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-09-01
Subjects:	whole exome sequencing Chopra-Amiel-Gordon syndrome ANKRD17 mRNA analysis splicing abnormality
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1422469/full