Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 6, 2022; 10(16): 5441-5445
Published online Jun 6, 2022. doi: 10.12998/wjcc.v10.i16.5441
PIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1: A case report
Fei Hou, Shan Shan, Hua Jin
Fei Hou, Shan Shan, Hua Jin, Department of Prenatal Diagnosis, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China
Author contributions: Hou F performed the research and wrote the manuscript; Shan S analyzed the data; Jin H designed the research study; all authors have read and approve the final manuscript.
Informed consent statement: The patient and her legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Hua Jin, PhD, Doctor, Department of Prenatal Diagnosis, Jinan Maternal and Child Health Hospital, No. 2 Jianguoxiaojing 3 Road, Shizhong District, Jinan 250001, Shandong Province, China. tonyshirly@163.com
Received: September 23, 2021
Peer-review started: September 23, 2021
First decision: January 10, 2022
Revised: January 19, 2022
Accepted: April 21, 2022
Article in press: April 21, 2022
Published online: June 6, 2022
Processing time: 252 Days and 8.1 Hours
Abstract
BACKGROUND

Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) associated with mutations in PIGN gene.

CASE SUMMARY

The authors report 1 case of a 16 years old girl who was presented with epilepsy, developmental delay and cerebellar atrophy. She harbors a compound heterozygous variant in the PIGN gene, include a nonsense splice site mutation (c.2557A>C) which was inherited from her mother, and a novel site mutation (c.980del) which was inherited from her father.

CONCLUSION

This case report expands the mutation spectrum found in PIGN gene, and strengthens the association between PIGN mutation and MCAHS1. Mutations in PIGN gene may be an underestimated cause of epilepsy. The authors recommend that, for patients with epilepsy or prenatal diagnosis of highly suspicious fetus, gene sequencing should be the preferred detection method.

Keywords: 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”.