Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea

Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea

Background: Biallelically mutated MYO5B is associated with microvillus inclusion disease (MVID, MIM: 251850), cholestasis, or both. This study aims at validating the splicing alteration and clinical features of an intron variant for diagnosis.Case Presentation: A homozygous variant of MYO5B, NM_0010...

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Bibliographic Details
Main Authors: Yu Zheng, Yuming Peng, Shuju Zhang, Hongmei Zhao, Weijian Chen, Yongjia Yang, Zhengmao Hu, Qiang Yin, Yu Peng
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Genetics
Subjects:
microvillus inclusion
RNA splicing
intron retention
minigene assay
MYO5B
diarrhea
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.872836/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.872836/full

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