PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature-Reference-Cited by-同舟云学术

PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature

Published:2018-01-23 Issue:3 Volume:31 Page:331-338
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Li Chunyun¹,Huang Lihua²,Tian Lang¹,Chen Jia¹,Li Shentang¹,Yang Zuocheng¹

Affiliation:

1. Department of Pediatrics , The Third Xiangya Hospital , Central South University , Changsha , P.R. China

2. Department of the Center for Medical Experiments , The Third Xiangya Hospital , Central South University , Changsha , P.R. China

Abstract

Abstract Background: PHKG2 gene mutation can lead to liver phosphorylase kinase (PhK) deficiency, which is related to glycogen storage disease type IX (GSD IX). GSD IXc due to PHKG2 mutation is the second most common GSD IX. Methods: We identified a novel mutation (c.553C>T, p.Arg185X) in PHKG2 in a Chinese family and verified it by next-generation and Sanger sequencing. The mutation spectrum of the PHKG2 gene was summarized based on 25 GSD IXc patients with PHKG2 mutations. Results: We found that missense mutation (39%) was the most common type of mutation, followed by nonsense mutation (23%). Mutations were more prevalent in Asian (12/25) and European (9/25) populations than in populations from elsewhere. The exons had more sites of mutation than the introns, and exons 3 and 6 were the most frequent sites of mutations. Conclusions: This study expands our knowledge of the PHKG2 gene mutation spectrum, providing a molecular basis for GSD IXc.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2017-0170/pdf

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