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Kongenitale Glykosilierungsstörung 1A

Das Jaeken-Syndrom ist eine autosomal rezessive kongenitale Glykosilierungsstörung vom Typ 1A. Mutationen im PMM2-Gen sind die Ursache.

Gliederung

Kongenitale Glykosilierungsstörung
Gillessen-Kaesbach-Nishimura-Syndrom
Kongenitale Glykosilierungsstörung 1A
PMM2
Kongenitale Glykosilierungsstörung 1L
Kongenitale Glykosilierungsstörung 1N

Referenzen:

1.

de Lonlay P et al. (2001) A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

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2.

Chang Y et al. (1993) Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional case.

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3.

Jaeken J et al. (1993) The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

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4.

Petersen MB et al. (1993) Early manifestations of the carbohydrate-deficient glycoprotein syndrome.

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5.

Van Geet C et al. (1993) A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome.

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6.

Panneerselvam K et al. (1996) Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.

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7.

Fiumara A et al. (1996) Familial Dandy-Walker variant in CDG syndrome.

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8.

Matthijs G et al. (1996) Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1).

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9.

Bjursell C et al. (1997) Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families.

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10.

de Koning TJ et al. (1998) Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome.

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11.

Carchon H et al. (1999) Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).

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12.

Vuillaumier-Barrot S et al. (1999) Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.

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13.

None (2000) Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly.

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14.

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

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15.

Van Schaftingen E et al. (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

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16.

Drouin-Garraud V et al. (2001) Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

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17.

Van Geet C et al. (2001) Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

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18.

Grunewald S et al. (2002) Congenital disorders of glycosylation: a review.

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19.

Sala G et al. (2002) Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts.

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20.

Silengo M et al. (2003) Hair changes in congenital disorders of glycosylation (CDG type 1).

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21.

Marquardt T et al. (2003) Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.

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22.

Schollen E et al. (2004) Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.

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23.

van de Kamp JM et al. (2007) Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.

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24.

Coman D et al. (2008) Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia.

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25.

Coman D et al. (2008) The skeletal manifestations of the congenital disorders of glycosylation.

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26.

Barone R et al. (2008) Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.

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27.

Kane MS et al. (2016) Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

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28.

Powell LD et al. (1994) Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?

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29.

Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

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30.

Matthijs G et al. (1997) Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

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31.

Bjursell C et al. () Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families.

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32.

Matthijs G et al. (1999) Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

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33.

Böhles H et al. (2001) Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).

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34.

Briones P et al. (2002) Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.

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35.

Neumann LM et al. (2003) Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.

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36.

Stibler H et al. (1978) Abnormal microheterogeneity of transferrin in serum and cerebrospinal fluid in alcoholism.

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37.

Clayton PT et al. (1992) Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.

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38.

Heyne K et al. (1992) [Diagnosis and nosology of glycanosis CDG ("carbohydrate deficient glycoprotein syndrome")].

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39.

Wada Y et al. (1992) Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome.

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40.

Ohno K et al. (1992) The carbohydrate deficient glycoprotein syndrome in three Japanese children.

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41.

Harrison HH et al. (1992) Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis?

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42.

Strömland K et al. (1990) Ocular pathology in disialotransferrin developmental deficiency syndrome.

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43.

Andréasson S et al. (1991) Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome.

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44.

Jaeken J et al. (1991) The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

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45.

Horslen SP et al. (1991) Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome.

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46.

Stibler H et al. (1990) Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.

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47.

Kristiansson B et al. (1989) Disialotransferrin developmental deficiency syndrome.

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48.

Jaeken J et al. (1987) An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins.

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49.

Harding BN et al. (1988) Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities.

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50.

Agamanolis DP et al. (1986) Lipoprotein disorder, cirrhosis, and olivopontocerebellar degeneration in two siblings.

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51.

Jaeken J et al. (1984) Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.

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52.

Fiumara A et al. (1994) Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

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53.

Martinsson T et al. (1994) Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.

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54.

Hagberg BA et al. () Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.

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55.

OMIM.ORG article

Omim 212065 external link
56.

Wikipedia Artikel

Wikipedia DE (Jaeken-Syndrom) external link
Update: 14. August 2020
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