PMID- 10066032
OWN - NLM
STAT- MEDLINE
DCOM- 19990519
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 55
IP  - 1
DP  - 1999 Jan
TI  - Missense mutations in phosphomannomutase 2 gene in two Japanese families with
      carbohydrate-deficient glycoprotein syndrome type 1.
PG  - 50-4
AB  - Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1) (MIM: 212065) is an
      autosomal recessive disorder with psychomotor retardation, strokelike episodes,
      ataxia, and olivopontocerebellar atrophy (OPCA) of neonatal onset. Recently, DNA 
      substitutions in a gene for phosphomannomutase 2 (PMM2), mapped to 16p13, were
      identified in patients with CDG1. Biochemical findings in previously reported
      Japanese patients with CDG1 were slightly different from those of Caucasians,
      suggesting genetic heterogeneity of CDG1 in Japanese patients. We investigated
      the DNA sequence of PMM2 in two unrelated Japanese 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 with CDG1. Our findings confirm that mutations in the 
      PMM2 gene account for at 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 PMM2 gene.
FAU - Kondo, I
AU  - Kondo I
AD  - Department of Hygiene, Ehime University School of Medicine, Japan.
      ikondo@me1serv.m.ehime-u.ac.jp
FAU - Mizugishi, K
AU  - Mizugishi K
FAU - Yoneda, Y
AU  - Yoneda Y
FAU - Hashimoto, T
AU  - Hashimoto T
FAU - Kuwajima, K
AU  - Kuwajima K
FAU - Yuasa, I
AU  - Yuasa I
FAU - Shigemoto, K
AU  - Shigemoto K
FAU - Kuroda, Y
AU  - Kuroda Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - EC 5.4.2.- (Phosphotransferases (Phosphomutases))
RN  - EC 5.4.2.8 (phosphomannomutase)
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Chromosomes, Human, Pair 16/genetics
MH  - Congenital Disorders of Glycosylation/*genetics
MH  - Female
MH  - Humans
MH  - Isoelectric Focusing
MH  - Japan
MH  - Male
MH  - *Mutation, Missense
MH  - Phosphotransferases (Phosphomutases)/*genetics
MH  - Polymorphism, Restriction Fragment Length
MH  - Sequence Analysis, DNA
EDAT- 1999/03/05 00:00
MHDA- 1999/03/05 00:01
CRDT- 1999/03/05 00:00
PHST- 1999/03/05 00:00 [pubmed]
PHST- 1999/03/05 00:01 [medline]
PHST- 1999/03/05 00:00 [entrez]
AID - 10.1034/j.1399-0004.1999.550109.x [doi]
PST - ppublish
SO  - Clin Genet. 1999 Jan;55(1):50-4. doi: 10.1034/j.1399-0004.1999.550109.x.