Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia

Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut0MMA, with a mutation in the MUT gene encoding the l-methylmalonyl-CoA mutase (MCM), and two were cblB MMA, with mutations in the MMAB gene required for synthesizing the deoxyad...

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Main Authors: Siriporn Keeratichamroen, James R Ketudat Cairns, Phannee Sawangareetrakul, Somporn Liammongkolkul, Voraratt Champattanachai, Chantragan Srisomsap, Mahattana Kamolsilp, Pornswan Wasant, Jisnuson Svasti
Other Authors: Chulabhorn Research Institute
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Published: 2018
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Online Access:https://repository.li.mahidol.ac.th/handle/123456789/24189
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spelling th-mahidol.241892018-08-24T08:41:54Z Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia Siriporn Keeratichamroen James R Ketudat Cairns Phannee Sawangareetrakul Somporn Liammongkolkul Voraratt Champattanachai Chantragan Srisomsap Mahattana Kamolsilp Pornswan Wasant Jisnuson Svasti Chulabhorn Research Institute Suranaree University of Technology Mahidol University Phramongkutklao College of Medicine Biochemistry, Genetics and Molecular Biology Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut0MMA, with a mutation in the MUT gene encoding the l-methylmalonyl-CoA mutase (MCM), and two were cblB MMA, with mutations in the MMAB gene required for synthesizing the deoxyadenosylcobalamin cofactor of MCM. The mut0patient was homozygous for a novel nonsense mutation in MUT, p.R31X (c.167C → T), and heterozygous for three previously described polymorphisms, p.K212K (c.712A → G), p.H532R (c.1671A → G), and p.V671I (c.2087G → A). The new MMAB mutation, p.E152X (c.454G → T), was found to be homozygous in one cblB patient and heterozygous in the other patient, who also had four intron polymorphisms in this gene. © 2007 Springer Science+Business Media, LLC. 2018-08-24T01:41:54Z 2018-08-24T01:41:54Z 2007-06-01 Article Biochemical Genetics. Vol.45, No.5-6 (2007), 421-430 10.1007/s10528-007-9085-y 00062928 2-s2.0-34250755916 https://repository.li.mahidol.ac.th/handle/123456789/24189 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=34250755916&origin=inward
institution Mahidol University
building Mahidol University Library
continent Asia
country Thailand
Thailand
content_provider Mahidol University Library
collection Mahidol University Institutional Repository
topic Biochemistry, Genetics and Molecular Biology
spellingShingle Biochemistry, Genetics and Molecular Biology
Siriporn Keeratichamroen
James R Ketudat Cairns
Phannee Sawangareetrakul
Somporn Liammongkolkul
Voraratt Champattanachai
Chantragan Srisomsap
Mahattana Kamolsilp
Pornswan Wasant
Jisnuson Svasti
Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia
description Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut0MMA, with a mutation in the MUT gene encoding the l-methylmalonyl-CoA mutase (MCM), and two were cblB MMA, with mutations in the MMAB gene required for synthesizing the deoxyadenosylcobalamin cofactor of MCM. The mut0patient was homozygous for a novel nonsense mutation in MUT, p.R31X (c.167C → T), and heterozygous for three previously described polymorphisms, p.K212K (c.712A → G), p.H532R (c.1671A → G), and p.V671I (c.2087G → A). The new MMAB mutation, p.E152X (c.454G → T), was found to be homozygous in one cblB patient and heterozygous in the other patient, who also had four intron polymorphisms in this gene. © 2007 Springer Science+Business Media, LLC.
author2 Chulabhorn Research Institute
author_facet Chulabhorn Research Institute
Siriporn Keeratichamroen
James R Ketudat Cairns
Phannee Sawangareetrakul
Somporn Liammongkolkul
Voraratt Champattanachai
Chantragan Srisomsap
Mahattana Kamolsilp
Pornswan Wasant
Jisnuson Svasti
format Article
author Siriporn Keeratichamroen
James R Ketudat Cairns
Phannee Sawangareetrakul
Somporn Liammongkolkul
Voraratt Champattanachai
Chantragan Srisomsap
Mahattana Kamolsilp
Pornswan Wasant
Jisnuson Svasti
author_sort Siriporn Keeratichamroen
title Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia
title_short Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia
title_full Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia
title_fullStr Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia
title_full_unstemmed Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia
title_sort novel mutations found in two genes of thai patients with isolated methylmalonic acidemia
publishDate 2018
url https://repository.li.mahidol.ac.th/handle/123456789/24189
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