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Titolo:
Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations
Autore:
Erlandson, A; Bjursell, C; Stibler, H; Kristiansson, B; Wahlstrom, J; Martinsson, T;
Indirizzi:
Sahlgrenska Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden Sahlgrenska Univ Hosp E Gothenburg Sweden S-41685 685 Gothenburg, Sweden Karolinska Hosp, Dept Neurol, S-10401 Stockholm, Sweden Karolinska Hosp Stockholm Sweden S-10401 urol, S-10401 Stockholm, Sweden Sahlgrenska Univ Hosp E, Dept Pediat, S-41685 Gothenburg, Sweden Sahlgrenska Univ Hosp E Gothenburg Sweden S-41685 685 Gothenburg, Sweden
Titolo Testata:
HUMAN GENETICS
fascicolo: 5, volume: 108, anno: 2001,
pagine: 359 - 367
SICI:
0340-6717(200105)108:5<359:SCPGCA>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN SYNDROME; SYNDROME TYPE-1; PMM2 MUTATION; LINKAGE DISEQUILIBRIUM; CONGENITAL DISORDERS; HUMAN GENOME; FAMILIES; GENE; GLYCOSYLATION; DISEASE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Martinsson, T Sahlgrenska Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden Sahlgrenska Univ Hosp E Gothenburg Sweden S-41685 , Sweden
Citazione:
A. Erlandson et al., "Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations", HUM GENET, 108(5), 2001, pp. 359-367

Abstract

Congenital disorders of glycosylation type Ia, (previous name carbohydrate-deficient glycoprotein syndrome type Ia; CDG-Ia) is an inherited disorder of the glycosylation of certain glycoproteins. The defect is caused by mutations in the phosphomannomutase 2 (PMM2) gene located in chromosome region 16p13. The purpose of this study was twofold: (1) to investigate the possible correlation between certain genotypes and the phenotype of the patients and their PMM activity, and (2) to study further the founder origin of the Scandinavian mutations. Sixty-four CDG-Ia patients were studied. Regardlessof mutation combination, the patients showed the basic neurological symptoms associated with CDG-Ia. However, patients carrying the mutation 548T-->Chad less severe disease, e.g., no pericardial effusions, malnutrition, or clinical coagulation disturbances. Liver dysfunction and peripheral neuropathy were milder. In contrast, patients carrying mutation 691G-->A showed a high incidence of severe malnutrition and hepatopathy, and they had the highest mortality including affected siblings. Heterozygotes for the two most common mutations (422G-->A and 357C-->A) displayed a phenotype of variable severity sometimes leading to early death. PMM activity showed no correlation with either genotype or phenotype but was reduced in most patients. There was a pronounced geographic clustering for some of the Scandinavian mutations. For example, 548T-->C was almost exclusively found in patients stemming from southeastern parts of Sweden, whereas 26G-->A was found to cluster in a region in the most southern parts of Sweden, suggesting that these mutations originated in these two regions separately as founder mutations. Themost frequent mutation (422G-->A) did not show a specific geographic focus. The widespread 422G-->A mutation is probably an older mutation, although haplotype data from intragenic polymorphisms indicate that this mutation also arose only once. The detailed information of the origin of mutations andtheir respective associated phenotypic pattern should enable improvements to be made regarding tools for genetic counseling and for prenatal diagnoses in CDG-Ia families.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 08:40:24