Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations
Yükleniyor...
Tarih
2012
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Academic Press Inc Elsevier Science
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Methylmalonic acidemia is an autosomal recessive metabolic disorder affecting the propionate oxidation pathway in the catabolism of several amino acids, odd-chain fatty acids, and cholesterol. Methylmalonic acidemia is characterized by elevated levels of methylmalonic acid in the blood and urine. Mutations in the MUT gene, encoding methylmalonyl-CoA mutase carries out isomerization of L-methylmalonyl-CoA to succinyl-CoA, cause methylmalonic acidemia. In this study, 30 Turkish patients diagnosed with mut methylmalonic acidemia were screened for mutations using custom designed sequencing microarrays. The study resulted in detection of 22 different mutations, 10 of which were novel: p.Q132*, p.A137G, c.753 + 1T, p.T387I, p.Q514E, p.P615L, p.D625V, c.1962_1963delTC, p.L674F, and c.2115_2116insA. The most common, p.P615T, was identified in 28.0% of patients. These results suggest that microarray based sequencing is a useful tool for the detection of mutations in MUT in patients with mut methylmalonic acidemia. (C) 2012 Elsevier Inc. All rights reserved.
Açıklama
Dursun, Ali/0000-0003-1104-9902; Ozgul, Riza Koksal/0000-0002-0283-635X
Anahtar Kelimeler
Methylmalonic acidemia, Microarray sequencing, Mutation, MUT
Kaynak
Molecular Genetics And Metabolism
WoS Q Değeri
Q2
Scopus Q Değeri
Q2
Cilt
106
Sayı
4
Künye
closedAccess
