Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Kongenitale Glykosilierungsstörung 1N

Die kongenitale Glykosilierungsstörung 1N ist eine autosomal rezessive Erkrankung. Mutationen im RFT1-Gen sind die Ursache.

Gliederung

Kongenitale Glykosilierungsstörung
Gillessen-Kaesbach-Nishimura-Syndrom
Kongenitale Glykosilierungsstörung 1A
Kongenitale Glykosilierungsstörung 1L
Kongenitale Glykosilierungsstörung 1N
RFT1

Referenzen:

1.

Haeuptle MA et al. (2008) Human RFT1 deficiency leads to a disorder of N-linked glycosylation.

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2.

Vleugels W et al. (2009) RFT1 deficiency in three novel CDG patients.

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3.

Jaeken J et al. (2009) RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.

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4.

Ondruskova N et al. (2012) RFT1-CDG in adult siblings with novel mutations.

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5.

Imtiaz F et al. (2000) Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

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6.

Stibler H et al. (1998) Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I.

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7.

None (2006) Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.

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8.

OMIM.ORG article

Omim 612015 [^]
9.

Orphanet article

Orphanet ID 244310 [^]
Update: 9. Mai 2019