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.

Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria / C. CAVICCHI C; DONATI MA; FUNGHINI S; LA MARCA G; MALVAGIA S; CIANI F; POGGI GM; PASQUINI E; ZAMMARCHI E; A. MORRONE. - In: CLINICAL GENETICS. - ISSN 0009-9163. - STAMPA. - 69:(2006), pp. 72-76. [10.1111/j.1399-0004.2005.00547.x]

Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.

LA MARCA, GIANCARLO;POGGI, GIOVANNI MARIA;ZAMMARCHI, ENRICO;MORRONE, AMELIA
2006

Abstract

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.
2006
69
72
76
C. CAVICCHI C; DONATI MA; FUNGHINI S; LA MARCA G; MALVAGIA S; CIANI F; POGGI GM; PASQUINI E; ZAMMARCHI E; A. MORRONE
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/311471
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