Key result
A novel homozygous nonsense mutation c.523C>T in the GPD1 gene was identified as the cause of transient infantile hypertriglyceridemia in a Chinese female infant.
Case Report (n=1)
No
This case report expands the known mutation spectrum of the GPD1 gene by identifying a novel homozygous nonsense mutation causing transient infantile hypertriglyceridemia in a Chinese patient.
Answers are grounded in this paper and cite their sources.
Should not yet change practice; extends GPD1 mutation spectrum in a hypothesis-generating case.
BACKGROUND: Transient infantile hypertriglyceridemia (HTGTI) is an autosomal recessive disorder caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene. CASE PRESENTATION: We report a case of HTGTI in a Chinese female infant. She presented with hepatomegaly, hypertriglyceridemia, moderately elevated transaminases, and hepatic steatosis at 3.5 months of age. A novel mutation c.523C>T, p. (Q175*) was identified in GPD1. The patient was a homozygote and her parents were heterozygous for the mutation. Ultrastructural study showed intrahepatocytic lipid droplets. CONCLUSIONS: This is the first reported case of HTGTI in Chinese, expanding the worldwide distribution of HTGTI and the mutation spectrum of GPD1.
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Li et al. (2018) conducted a case report in Transient infantile hypertriglyceridemia (HTGTI) (n=1). GPD1 homozygous mutation c.523C>T was evaluated on Genetic diagnosis and clinical phenotype. A novel homozygous nonsense mutation c.523C>T in the GPD1 gene was identified as the cause of transient infantile hypertriglyceridemia in a Chinese female infant.
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