A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia
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- 作者：Lei-Lei Gu ; Xin-Hua Li ; Yue Han ; Dong-Hua Zhang ; Qi-Ming Gong ; Xin-Xin Zhang
- 关键词：ACE ; angiotensin-converting enzyme ; ALT ; alanine aminotransferase ; AST ; aspartate aminotransferase ; CMV ; cytomegalovirus ; DBil ; direct bilirubin ; EBV ; Epstein&ndash ; Barr virus ; ER ; endoplasmic reticulum ; GGT ; 纬-glutamyltranspeptidase ; GSD-I ; glycogen storage disease type I ; GSD-Ia ; glycogen storage disease type Ia ; G6P ; glucose-6-phosphate ; G6Pase ; glucose-6-phosphatase ; G6PC ; glucose-6-phosphatase ; catalytic ; G6PT ; glucose-6-phosphate transporter ; HBsAg ; hepatitis B surface antigen ; HBcAg ; hep
- 刊名：Gene
- 出版年：25 February, 2014
- 年：2014
- 卷：536
- 期：2
- 页码：362-365
- 全文大小：491 K
文摘
Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive genetic disorder resulting in hypoglycemia, hepatomegaly and growth retardation. It is caused by mutations in the G6PC gene encoding Glucose-6-phosphatase. To date, over 80 mutations have been identified in the G6PC gene. Here we reported a novel mutation found in a Chinese patient with abnormal transaminases, hypoglycemia, hepatomegaly and short stature. Direct sequencing of the coding region and splicing-sites in the G6PC gene revealed a novel no-stop mutation, p.*358Yext*43, leading to a 43 amino-acid extension of G6Pase. The expression level of mutant G6Pase transcripts was only 7.8% relative to wild-type transcripts. This mutation was not found in 120 chromosomes from 60 unrelated healthy control subjects using direct sequencing, and was further confirmed by digestion with Rsa I restriction endonuclease. In conclusion, we revealed a novel no-stop mutation in this study which expands the spectrum of mutations in the G6PC gene. The molecular genetic analysis was indispensable to the diagnosis of GSD-Ia for the patient.