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First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy

BackgroundThe precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in DMD or sarcoglycan genes. This study aimed to determine the genetic diagnosis of three patients from...

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Principais autores: Zhiying Xie, Chengyue Sun, Chang Liu, Xujun Chu, Qiang Gang, Meng Yu, Yiming Zheng, Lingchao Meng, Fan Li, Dongliang Xia, Li Wang, Ying Li, Jianwen Deng, He Lv, Zhaoxia Wang, Wei Zhang, Yun Yuan
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2022-06-01
Serier:Frontiers in Pediatrics
Fag:
SGCB
aberrant splicing
intron
splice-altering variants
diagnosis
Online adgang:https://www.frontiersin.org/articles/10.3389/fped.2022.900280/full
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