Mutation analysis of the MCM gene in Israeli patients with mut0 disease

Itai Berger, Avraham Shaag, Yair Anikster, E. Regula Baumgartner, Maskit Bar-Meir, Adina Joseph, Orly N. Elpeleg

Research output: Contribution to journalArticlepeer-review

Abstract

Three novel mutations (IVS8+3a → g, N219Y, and E414X) were identified in 6 unrelated patients with mut0 methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a → g mutation may contribute to their later age of onset (3-11 months of age). Nonetheless, delayed onset was not associated with better neurological outcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region.

Original languageEnglish
Pages (from-to)107-110
Number of pages4
JournalMolecular Genetics and Metabolism
Volume73
Issue number1
DOIs
StatePublished - 2001
Externally publishedYes

Keywords

  • Methylmalonyl-CoA mutase
  • Mut methylmalonic acidemia

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