Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.
Three novel mutations (IVS8+3a --> g, N219Y, and E414X) were identified in 6 unrelated patients with mut(0) 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.
Berger
I
I
The Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem 91030, Israel.
Shaag
A
A
Anikster
Y
Y
Baumgartner
E R
ER
Bar-Meir
M
M
Joseph
A
A
Elpeleg
O N
ON
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics* / Q000652:urine; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007557:Israel; D008764:Methylmalonic Acid / Q000652:urine*; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics*; D009154:Mutation
D008764:Methylmalonic Acid; D004247:DNA; D008765:Methylmalonyl-CoA Mutase