A likely pathogenic variant putatively affecting splicing ofPIGAidentified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing-Reference-Cited by-同舟云学术

A likely pathogenic variant putatively affecting splicing ofPIGAidentified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing

Published:2018-07-04 Issue:5 Volume:6 Page:739-748
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Yang Junli¹,Wang Qiong²,Zhuo Qingcui¹,Tian Huiling³,Li Wen¹,Luo Fang⁴,Zhang Jinghui¹,Bi Dan¹,Peng Jing²,Zhou Dong¹^ORCID,Xin Huawei²⁵^ORCID

Affiliation:

1. Department of Pediatrics; Qilu Hospital of Shandong University; Jinan China

2. Institute for Biology and Medicine; Wuhan University of Science and Technology; Wuhan China

3. Children Rehabilitation Center of Linyi Women and Children's Hospital; Linyi China

4. MyGenostics Inc.; Beijing China

5. School of Pharmacy; Linyi University; Linyi China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.428/fullpdf

Reference46 articles.

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2. Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia;Brady;European Journal of Medical Genetics,2014

3. Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities;Crabben;American Journal of Medical Genetics Part A,2014

4. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2;Fauth;American Journal of Medical Genetics. Part A,2016

5. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy;Fleming;American Journal of Medical Genetics. Part A,2016

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