Literature DB >> 12948746

Novel mutations in a Thai patient with methylmalonic acidemia.

Voraratt Champattanachai1, James R Ketudat Cairns, Vorasuk Shotelersuk, Siriporn Keeratichamroen, Phannee Sawangareetrakul, Chantragan Srisomsap, Verachai Kaewpaluek, Jisnuson Svasti.   

Abstract

A Thai patient with methylmalonic acidemia (MMA) and no methylmalonyl-CoA mutase (MCM, EC 5.4.99.2) activity in leukocytes in the presence of deoxyadenosyl cobalamin (mut(0)) was found to be heterozygous for two novel mutations: 1048delT and 1706_1707delGGinsTA (G544X), inherited from her mother and father, respectively. The proband was also heterozygous for the polymorphism, A499T, which did not affect the activity of recombinant MCM.

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Year:  2003        PMID： 12948746     DOI： 10.1016/s1096-7192(03)00106-9

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  9 in total

1.  Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.

Authors:  Mei-Ying Liu; Tze-Tze Liu; Yang-Ling Yang; Ying-Chen Chang; Ya-Ling Fan; Shu-Fen Lee; Yu-Ting Teng; Szu-Hui Chiang; Dau-Ming Niu; Shio-Jean Lin; Mei-Chun Chao; Shuan-Pei Lin; Lian-Shu Han; Yu Qi; Kwang-Jen Hsiao
Journal:  JIMD Rep       Date:  2012-01-31

2.  Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.

Authors:  Fatemeh Keyfi; Mohammad R Abbaszadegan; Mojtaba Sankian; Arndt Rolfs; Slobodanka Orolicki; Mohammad Pournasrollah; Morteza Alijanpour; Abdolreza Varasteh
Journal:  Mol Biol Rep       Date:  2019-02-02       Impact factor: 2.316

Review 3.  Genetic and genomic systems to study methylmalonic acidemia.

Authors:  R J Chandler; C P Venditti
Journal:  Mol Genet Metab       Date:  2005-09-22       Impact factor: 4.797

4.  Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.

Authors:  Chandrawati Kumari; Seema Kapoor; Bijo Varughese; Sunil Kumar Pollipali; Siddarth Ramji
Journal:  Indian J Clin Biochem       Date:  2016-08-04

Review 5.  Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes.

Authors:  D Sean Froese; Roy A Gravel
Journal:  Expert Rev Mol Med       Date:  2010-11-29       Impact factor: 5.600

6.  Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.

Authors:  Lian-Shu Han; Zhuo Huang; Feng Han; Jun Ye; Wen-Juan Qiu; Hui-Wen Zhang; Yu Wang; Zhu-Wen Gong; Xue-Fan Gu
Journal:  World J Pediatr       Date:  2015-10-11       Impact factor: 2.764

7.  Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.

Authors:  Dina A Ghoraba; Magdy M Mohammed; Osama K Zaki
Journal:  Meta Gene       Date:  2015-02-25

8.  Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.

Authors:  Arnaud Wiedemann; Abderrahim Oussalah; Nathalie Lamireau; Maurane Théron; Melissa Julien; Jean-Philippe Mergnac; Baptiste Augay; Pauline Deniaud; Tom Alix; Marine Frayssinoux; François Feillet; Jean-Louis Guéant
Journal:  Cell Rep Med       Date:  2022-06-27

9.  Genetics and genomics in Thailand: challenges and opportunities.

Authors:  Vorasuk Shotelersuk; Chanin Limwongse; Surakameth Mahasirimongkol
Journal:  Mol Genet Genomic Med       Date:  2014-05-14       Impact factor: 2.183
  9 in total

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