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Paper Information

Journal:   CELL JOURNAL (YAKHTEH)   FALL 2016 , Volume 18 , Number 3 (71); Page(s) 397 To 404.
 
Paper: 

FUNCTIONAL ANALYSIS OF A NOVEL SPLICING MUTATION IN THE MUTASE GENE OF TWO UNRELATED PEDIGREES

 
 
Author(s):  AHMADLOO SOMAYEH, TALEBI SAEID, MIRYOUNESI MOHAMMAD, PASALAR PARVIN, KERAMATIPOUR MOHAMMAD*
 
* DEPARTMENT OF MEDICAL GENETICS, SCHOOL OF MEDICINE, TEHRAN UNIVERSITY OF MEDICAL SCIENCES, POURSINA AVE., KESHAVARZ BLVD, TEHRAN, IRAN
 
Abstract: 

Objective: Methylmalonic acidura (MMA) is a rare autosomal recessive inborn error of metabolism. In this study we present a novel nucleotide change in the mutase (MUT) gene of two unrelated Iranian pedigrees and introduce the methods used for its functional analysis.
Materials and Methods: Two probands with definite diagnosis of MMA and a common novel variant in theMUT were included in a descriptive study. Bioinformatic prediction of the splicing variant was done with different prediction servers. Reverse transcription- polymerase chain reaction (RT-PCR) was done for splicing analysis and the products were analyzed by sequencing.
Results: The included index patients showed elevated levels of propionylcarnitine (C3).
Urine organic acid analysis confirmed the diagnosis of MMA, and screening for mutations in theMUT revealed a novel C to G variation at the 3' splice acceptor site in intron 12. In silico analysis suggested the change as a mutation in a conserved sequence. The splicing analysis showed that the C to G nucleotide change at position -3 in the acceptor splice site can lead to retention of the intron 12 sequence.
Conclusion: This is the first report of a mutation at the position -3 in the MUT intron 12 (c.2125-3C>G). The results suggest that the identified variation can be associated with the typical clinical manifestations of MMA.

 
Keyword(s): AMINO ACID METABOLISM, INBORN ERRORS, METHYLMALONYL-COA MUTASE, 3’ SPLICE ACCEPTOR SITE
 
 
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APA: Copy

AHMADLOO, S., & TALEBI, S., & MIRYOUNESI, M., & PASALAR, P., & KERAMATIPOUR, M. (2016). FUNCTIONAL ANALYSIS OF A NOVEL SPLICING MUTATION IN THE MUTASE GENE OF TWO UNRELATED PEDIGREES. CELL JOURNAL (YAKHTEH), 18(3 (71)), 397-404. https://www.sid.ir/en/journal/ViewPaper.aspx?id=510762



Vancouver: Copy

AHMADLOO SOMAYEH, TALEBI SAEID, MIRYOUNESI MOHAMMAD, PASALAR PARVIN, KERAMATIPOUR MOHAMMAD. FUNCTIONAL ANALYSIS OF A NOVEL SPLICING MUTATION IN THE MUTASE GENE OF TWO UNRELATED PEDIGREES. CELL JOURNAL (YAKHTEH). 2016 [cited 2021August01];18(3 (71)):397-404. Available from: https://www.sid.ir/en/journal/ViewPaper.aspx?id=510762



IEEE: Copy

AHMADLOO, S., TALEBI, S., MIRYOUNESI, M., PASALAR, P., KERAMATIPOUR, M., 2016. FUNCTIONAL ANALYSIS OF A NOVEL SPLICING MUTATION IN THE MUTASE GENE OF TWO UNRELATED PEDIGREES. CELL JOURNAL (YAKHTEH), [online] 18(3 (71)), pp.397-404. Available: https://www.sid.ir/en/journal/ViewPaper.aspx?id=510762.



 
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