Mutation analysis of the GLUD1 gene in patients with glutamate dehydrogenase congenital hyperinsulinism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 493-496, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-234375
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the glutamate dehydrogenase 1 (GLUD1) gene mutation of three patients diagnosed as glutamate dehydrogenase congenital hyperinsulinism (GDH-HI).</p><p><b>METHODS</b>Three patients diagnosed as GDH-HI and their parents were involved in the study. PCR-DNA direct sequencing was used to analyze the exons 6,7,10,11 and 12 of the GLUD1 gene.</p><p><b>RESULTS</b>In the first case, an R269H heterozygous mutation was found in the GLUD1 gene, with autosomal dominant inheritance. In the second case, there was a de novo S445L heterozygous mutation of the GLUD1 gene. No mutation was detected in the third case.</p><p><b>CONCLUSION</b>In Chinese, R269H, S445L heterozygous mutation of the GLUD1 gene can lead to GDH-HI. Genetic analysis is necessary in making genetic diagnosis of congenital hyperinsulinsm.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
China
/
Exons
/
Glutamate Dehydrogenase (NADP/)
/
Mutation, Missense
/
Congenital Hyperinsulinism
/
Asian People
/
Genetics
Limits:
Adult
/
Female
/
Humans
/
Infant
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2010
Type:
Article
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