A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia.

摘要: Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive genetic disorder resulting in hypoglycemia, hepatomegaly and growth retardation. It caused by mutations the G6PC gene encoding Glucose-6-phosphatase. To date, over 80 have been identified gene. Here we reported a novel mutation found Chinese patient with abnormal transaminases, short stature. Direct sequencing of coding region splicing-sites revealed no-stop mutation, p.*358Yext*43, leading to 43 amino-acid extension G6Pase. The expression level mutant G6Pase transcripts was only 7.8% relative wild-type transcripts. This not 120 chromosomes from 60 unrelated healthy control subjects using direct sequencing, further confirmed digestion Rsa I restriction endonuclease. In conclusion, this study which expands spectrum molecular analysis indispensable diagnosis GSD-Ia for patient.