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Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria
Author(s) -
Cavicchi C,
Donati MA,
Funghini S,
La Marca G,
Malvagia S,
Ciani F,
Poggi GM,
Pasquini E,
Zammarchi E,
Morrone A
Publication year - 2006
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2005.00547.x
Subject(s) - methylmalonic acid , prenatal diagnosis , proband , methylmalonic aciduria , methylmalonic acidemia , amniotic fluid , genetics , genetic counseling , medicine , biology , fetus , microbiology and biotechnology , pregnancy , mutation , gene , vitamin b12
Genetic and biochemical prenatal diagnosis was performed at 11 weeks of gestation in a family with a proband affected by mut methylmalonic aciduria (MMA) and homozygotes for the MUT gene c.643G>A (p.Gly215Ser) mutation. Both chorionic villus and amniotic fluid samples were used. The presence of high levels of methylmalonic acid and propionylcarnitine determined by gas chromatography/mass spectrometry and LC/MS/MS analysis, respectively, and the identification of the p.Gly215Ser at a homozygous level in foetal DNA allowed a certain, rapid and early diagnosis. To our knowledge, this is the first mut MMA prenatal diagnosis carried out by genetic and biochemical approach.