Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation

Sitosterolemia (OMIM ##210250), also known as phytosterolemia, is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette subfamily G member 5 (ABCG5) or member 8 (ABCG8) genes. This leads to abnormal functions of the transporter sterolin-1 protein encoded by ABCG5 and st...

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Bibliographic Details
Main Authors: Ming-fang Shen, Ya-nan Hu, Wei-xiang Chen, Li-sheng Liao, Min Wu, Qiu-yan Wu, Jian-hui Zhang, Yan-ping Zhang, Jie-wei Luo, Xin-fu Lin
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
sitosterolemia
sterolin-1 protein
ABCG5
mutation
bioinformatics analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2022.887618/full

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