Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease

Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease

Background: Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in ATP7A gene. The aim of the present study is to determine the clinical characteristics and molecular basis of one patient with MD.Methods: One 10-month-old Chinese boy...

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Bibliographic Details
Main Authors: Xiufang Zhi, Qi Ai, Wenchao Sheng, Yuping Yu, Jianbo Shu, Changshun Yu, Xiaoli Yu, Dong Li, Chunquan Cai
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Genetics
Subjects:
ATP7A gene
Menkes disease
whole genome sequencing
RNA sequencing
deep intronic variants
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.852764/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.852764/full

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