Clinical Original Article
A novel compound heterozygous mutation in G6PC gene causes type Ⅰa glycogen storage disease with secondary gout
Chen Lihui, Chen Haibing
Published 2021-03-25
Cite as Chin J Endocrinol Metab, 2021, 37(3): 200-204. DOI: 10.3760/cma.j.cn311282-20200402-00238
Abstract
ObjectiveTo investigate the clinical characteristics and genetic mechanism of a patient with gout and hyperlipidemia.
MethodsClinical data of patient and his parents were collected in details, including their medical histories, physical examination results, and laboratory tests. DNA was extracted from the peripheral blood of the patient and their parents for whole exome sequencing. Protein function was predicted for new mutations.
ResultsThe patient was a 22-year-old male with typical clinical manifestations of hypoglycemia, hyperuricemia, gout, and hyperlipidemia. c. 260delG(p.V88Ffs*13)frameshift mutation was detected in the second exon of the patient′s glucose-6-phosphatase(G6PC) gene, and c. 532C>G(p.P178A)missense mutation was detected in the fourth exon. The father and mother of the patient were heterozygotes carrying c. 260delG(p.V88Ffs*13)and c. 532C>G(p.P178A)mutations, respectively. Protein structure prediction showed that mutations were able to cause protein structure changes. The patient was diagnosed as glycogen storage disease type Ⅰa(GSD-Ⅰa)with secondary gout.
ConclusionsThe compound heterozygous mutation of G6PC gene is the pathogenic basis of this gout patient. The discovery of the new pathogenic mutation c. 260delG(p.V88Ffs*13)of the G6PC gene broadened the spectrum of pathogenic genes of GSD-Ⅰa and gout in Chinese patients.
Key words:
Gout; G6PC gene; Genemutation
Contributor Information
Chen Lihui
Department of Endocrinology and Metabolism, Shanghai Jiaotong University Affiliated Sixth People′s Hospital, Shanghai 200233, China
Chen Haibing
Department of Endocrinology and Metabolism, Shanghai Jiaotong University Affiliated Sixth People′s Hospital, Shanghai 200233, China
