Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 48-52, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-247738
ABSTRACT
<p><b>OBJECTIVE</b>To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.</p><p><b>METHODS</b>Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.</p><p><b>RESULTS</b>DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes.</p><p><b>CONCLUSION</b>Mutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Brain
/
Diagnostic Imaging
/
Molecular Sequence Data
/
Base Sequence
/
Radiography
/
Brain Diseases, Metabolic, Inborn
/
Alcohol Oxidoreductases
/
Genetics
/
Mutation
Type of study:
Diagnostic study
Limits:
Child
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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