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A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease.

Abstract：

:Maple syrup urine disease (MSUD) is a rare, autosomal-recessive disorder of branched-chain amino-acid metabolism. In the Philippines, many MSUD cases have been diagnosed clinically. Here, molecular analysis of the dihydrolipoyl transacylase (E2) gene was done in 13 unrelated families from the Philippines. A novel deletion spanning 4.1 kb of intron 10 and 601 bp of exon 11, caused by non-homologous recombination between an L1 repeat in intron 10 and an Alu repeat in exon 11, was found in 8 out of 13 families, with 5 of them being homozygous for the mutation, implicating it as a founder mutation of Filipino MSUD. The resulting mutant E2 mRNA contains a 239-bp insertion after exon 10, thereby producing a new terminal exon. Large-scale population screening of the deletion revealed that one carrier of the mutation was identified in 100 normal Filipinos. These findings suggest that a limited number of mutations might underlie MSUD in the Filipino population, potentially facilitating prenatal diagnosis and carrier detection of MSUD in this group.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Silao CL,Padilla CD,Matsuo M

doi

10.1016/j.ymgme.2003.10.006

subject

Has Abstract

pub_date

2004-02-01 00:00:00

pages

100-4

issue

2

eissn

1096-7192

issn

1096-7206

pii

S1096719203002439

journal_volume

81

pub_type

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