Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.
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.
Cavicchi
C
C
Metabolic Unit, Department of Pediatrics, University of Florence, Florence, Italy.
Donati
M A
MA
Pasquini
E
E
Poggi
G M
GM
Dionisi-Vici
C
C
Parini
R
R
Zammarchi
E
E
Morrone
A
A
D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003062:Codon; D004252:DNA Mutational Analysis / Q000379:methods*; D018076:DNA, Complementary / Q000378:metabolism; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007558:Italy; D008239:Lysine / Q000737:chemistry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency* / Q000235:genetics*; D009154:Mutation; D011296:Prenatal Diagnosis / Q000379:methods*
D003062:Codon; D018076:DNA, Complementary; D008765:Methylmalonyl-CoA Mutase; D008239:Lysine