Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Phosphomannomutase 2

Das Gen PMM2 kodiert eine Phosphomutatse, die an der Glcosilierung der Mannose beteiligt ist. Mutationen führen zu autosomal rezessiven Erkrankungen. Liegen diese ausschließlich im kodierenden Bereich führen sie zur kongenitale Glykosilierungsstörung 1A, wenn jedoch eine Promotor-Mutation beteiligt ist, so kommt es zur polyzystische Nierenerkrankung mit hyperinsulinämischer Hypoglycämie.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Kongenitale Glykosilierungsstörung 1A
PMM2
Polyzystische Nierenerkrankung mit hyperinsulinämischer Hypoglycämie
PMM2

Referenzen:

1.

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

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2.

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

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3.

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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4.

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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5.

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

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6.

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

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7.

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

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8.

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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9.

Matthijs G et al. (1997) PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13.

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10.

Schollen E et al. (1998) Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.

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11.

Matthijs G et al. (1998) Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

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12.

Kjaergaard S et al. () Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.

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13.

Kondo I et al. (1999) Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.

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14.

Kjaergaard S et al. (1999) Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

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15.

Schollen E et al. (2000) Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

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16.

Vuillaumier-Barrot S et al. (2000) Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.

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17.

Matthijs G et al. (2000) Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

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18.

Bjursell C et al. (2000) PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

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19.

Grünewald S et al. (2001) High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

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20.

Westphal V et al. (2002) A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

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21.

Quelhas D et al. (2007) Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.

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22.

Schollen E et al. (2007) Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

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23.

Vega AI et al. (2009) Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

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24.

Cabezas OR et al. (2017) Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

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25.

OMIM.ORG article

Omim 601785 [^]
26.

NCBI article

NCBI 5373 [^]
27.

Orphanet article

Orphanet ID 117903 [^]
Update: 29. April 2019