Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I
Autore:
Mizugishi, K; Yamanaka, K; Kuwajima, K; Yuasa, I; Shigemoto, K; Kondo, I;
Indirizzi:
Univ Tokyo, Sch Med, Dept Pediat, Tokyo 113, Japan Univ Tokyo Tokyo Japan 113 Tokyo, Sch Med, Dept Pediat, Tokyo 113, Japan Ibaraki Handicapped Childrens Hosp, Dept Pediat, Ibaraki, Osaka, Japan Ibaraki Handicapped Childrens Hosp Ibaraki Osaka Japan aki, Osaka, Japan Tottori Univ, Sch Med, Dept Legal Med, Tottori 680, Japan Tottori Univ Tottori Japan 680 h Med, Dept Legal Med, Tottori 680, Japan Ehime Univ, Sch Med, Dept Hyg, Matsuyama, Ehime 790, Japan Ehime Univ Matsuyama Ehime Japan 790 ept Hyg, Matsuyama, Ehime 790, Japan
Titolo Testata:
BRAIN & DEVELOPMENT
fascicolo: 4, volume: 21, anno: 1999,
pagine: 223 - 228
SICI:
0387-7604(199906)21:4<223:MMITP2>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKAGE DISEQUILIBRIUM; SERUM GLYCOPROTEINS; CDG SYNDROME; ABNORMALITIES; DISORDER; FAMILIES; DISEASE; SEC53;
Keywords:
carbohydrate-deficient glycoprotein syndrome type I; isoelectric focusing study; chromosome 16p; phosphomannomutase;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Mizugishi, K RIKEN,3-1-1 Phys & Chem Res, Tsukuba Life Sci Ctr, Dept Mol Neurobiol Lab, RIKEN 3-1-1 Kouyadai Tsukuba Ibaraki Japan 3050074 obiol Lab,
Citazione:
K. Mizugishi et al., "Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I", BRAIN DEVEL, 21(4), 1999, pp. 223-228

Abstract

Carbohydrate-deficient glycoprotein syndrome type I(CDG1) is an autosomal recessive disorder characterized by severe nervous system involvement and acarbohydrate moiety deficiency in N-linked glycoproteins. Clinical symptoms are psychomotor retardation, stroke-like episodes or hemorrhagic episodes, hepatic dysfunction, polyneuropathy, and cerebellar ataxia. Marked atrophy of the cerebellar hemispheres and pens is recognizable on CT scan or MRI. CDG1 has been mapped to human chromosome 16p by linkage studies. Recently,missense mutations in the gene for phosphomannomutase (PMM2) have been detected in Caucasian patients with CDG1. We studied DNA mutations in PMM2 in a Japanese family with CDG1. DNA sequencing of PMM2 in the siblings showed missense mutations of maternal origin in exon 5 and of paternal origin in exon 8. No such mutations were detected in 50 unrelated healthy Japanese. These findings suggest that the PMM2 is responsible for CDG 1 in the Japaneseas well as in Caucasians, and CDG1 may be the diagnosis in OPCA of neonatal onset, more often than currently thought. (C) 1999 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 12:51:58