Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency

J Inherit Metab Dis. 2005;28(6):1175-8. doi: 10.1007/s10545-005-0191-x.

Abstract

We report seven novel mutations, including three amino acids substitutions (p.Glu286Lys, p.Cys560Tyr, p.Pro615Leu), two nonsense mutations (p.Arg31X, p.Glu 451X), one splicing defect (c.2125-1G >A), one small deletion (c.1758-1759delA) and nine previously described mutations identified in 10 unrelated Italian patients affected by mut MMA.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Child
  • Child, Preschool
  • Codon
  • DNA Mutational Analysis / methods*
  • DNA, Complementary / metabolism
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Infant
  • Italy
  • Lysine / chemistry
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics*
  • Methylmalonyl-CoA Mutase / deficiency*
  • Methylmalonyl-CoA Mutase / genetics*
  • Mutation
  • Prenatal Diagnosis / methods*

Substances

  • Codon
  • DNA, Complementary
  • Methylmalonyl-CoA Mutase
  • Lysine