I. Kondo et al., Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1, CLIN GENET, 55(1), 1999, pp. 50-54
Citations number
16
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1) (MIM: 212065) is
an autosomal recessive disorder with psychomotor retardation, strokelike e
pisodes, ataxia, and olivopontocerebellar atrophy (OPCA) of neonatal onset.
Recently, DNA substitutions in a gene for phosphomannomutase 2 (PMM2), map
ped to 16p13, were identified in patients with CDG1. Biochemical findings i
n previously reported Japanese patients with CDG1 were slightly different f
rom those of Caucasians, suggesting genetic heterogeneity of CDG1 in Japane
se patients. We investigated the DNA sequence of PMM2 in two unrelated Japa
nese families with CDG1. Missense mutations in exon 5 (Phe144Leu) and exon
8 (Tyr229Ser, Arg238Pro) of the PMM2 gene were present in two families, but
they were not present in 72 unrelated healthy Japanese individuals. One of
the missense mutations, Phe144Leu in exon 5, was common to two families wi
th CDG1. Our findings confirm that mutations in the PMM2 gene account for a
t least some Japanese patients with CDG1 similar to that seen in Caucasians
and that exons 5 and 8 are hot spots of mutations of CDG1 caused by the PM
M2 gene.