Publication Name	World Journal of Clinical Cases
Manuscript ID	71817
Country	China

Received	2021-09-23 01:58
Peer-Review Started	2021-09-23 01:59
To Make the First Decision
Return for Revision	2022-01-10 09:04
Revised	2022-01-19 01:48
Second Decision	2022-04-12 02:04
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2022-04-21 17:43
Articles in Press	2022-04-21 17:43
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript	2022-05-10 09:07
Publish the Manuscript Online	2022-06-02 10:05

ISSN	2307-8960 (online)
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Category	Genetics & Heredity
Manuscript Type	Case Report
Article Title	PIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Fei Hou, Shan Shan and Hua Jin
ORCID	Author(s) ORCID Number Fei Hou http://orcid.org/0000-0001-7164-9200 Shan Shan http://orcid.org/0000-0002-8267-2833 Hua Jin http://orcid.org/0000-0001-8008-8257
Funding Agency and Grant Number
Corresponding Author	Hua Jin, PhD, Doctor, Doctor, Department of Prenaltal Diagnosis, Jinan Maternal and Child Health Hospital, No. 2 Jianguoxiaojing 3 Road, Shizhong District, Jinan 250001, Shandong Province, China. tonyshirly@163.com
Key Words	PIGN; Multiple congenital anomalies-hypotonia-seizures Syndrome 1; MCAHS1; Whole-exome sequencing
Core Tip	We report 1 case of a 16-year-old girl who presented with epilepsy, developmental delay, and cerebellar atrophy. She harbors compound heterozygous variants in the PIGN gene, including a nonsense splice site mutation (c.2557A>C) that was inherited from her mother and a novel site mutation (c.980del) that was inherited from her father. The maternally inherited variant (c.2557A>C) has not been seen observed in the gnomAD and 1000genomes, which was called variants of unknown significance. The novel mutation c.980del (paternally inherited) that was detected in the prohand was predicted to be “probably damaging”.
Publish Date	2022-06-02 10:05
Citation	Hou F, Shan S, Jin H. A PIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1: A case report. World J Clin Cases 2022; 10(16): 5441-5445
URL	https://www.wjgnet.com/2307-8960/full/v10/i16/5441.htm
DOI	https://dx.doi.org/10.12998/wjcc.v10.i16.5441

Full Article (PDF)	WJCC-10-5441.pdf
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Manuscript File	71817_Auto_Edited-LJH.docx
Answering Reviewers	71817-Answering reviewers.pdf
Audio Core Tip	71817-Audio core tip.m4a
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Peer-review Report	71817-Peer-review(s).pdf
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Scientific Misconduct Check	71817-CrossCheck.jpg
Scientific Editor Work List	71817-Scientific editor work list.pdf
CrossCheck Report	71817-CrossCheck report.pdf