Mutation analysis and prenatal diagnosis for a pedigree affected with maple syrup urine disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 679-682, 2018.
Article
in Chinese
| WPRIM
| ID: wpr-688169
ABSTRACT
<p><b>OBJECTIVE</b>To carry out mutation analysis for a pedigree affected with maple syrup urine disease (MSUD).</p><p><b>METHODS</b>Clinical data of the proband was collected. Potential mutations of the BCKDHA and BCKDHB genes were analyzed by PCR and Sanger sequencing. Prenatal diagnosis was provided to a high-risk fetus at 12th gestational week through chorionic villus sampling.</p><p><b>RESULTS</b>Two heterozygous mutations c.284G>C (p.Gly95Ala) and c.853C>T (p.Arg285*) of the BCKDHB gene were identified in the proband, which were inherited from his mother and father, respectively. Among these, c.853C>T (p.Arg285*) was known to be pathogenic, while c.284G>C (p.Gly95Ala) was a novel mutation. Prenatal diagnosis showed that the fetus has inherited the c.284G>C (p.Gly95Ala) mutation from its mother but no mutation from its father. After birth, the infant appeared to be healthy.</p><p><b>CONCLUSION</b>The compound heterozygous mutations c.284G>C (p.Gly95Ala) and c.853C>T (p.Arg285*) probably underlie the pathogenesis of MUSD in the proband. Mutation analysis can facilitate prenatal diagnosis and genetic counseling for the affected families.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2018
Type:
Article
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