Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Polyzystische Nierenerkrankung mit hyperinsulinämischer Hypoglycämie

Die hyperinsulinämische Herperglycämie mit polyzystischer Nierenerkrankung ist eine autosomal rezessive Erkrankung, die durch eine homozygote PMM2-Promotor-Mutation oder eine compound heterozygote Promotormutation mit einer kodierenden PMM2-Mutation ausgelöste wird. Die Erkrankung manifestiert sich früh in der Kindheit.


17 derartige Fälle in 11 Familien sind bisher beschrieben.[1]


Zystische Nierenerkrankungen
Alagille-Syndrom 2
Autosomal dominante polyzystische Nierenerkrankung
Autosomal rezessive polyzystische Nieren und Lebererkrankung
Branchio-oto-renale Dysplasie
Komplex medullärer Zystennierenerkrankungen
Nierenzysten und Diabetes (RCAD)
Polyzystische Nierenerkrankung mit hyperinsulinämischer Hypoglycämie



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


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


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


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


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.


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


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


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


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


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


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


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).


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


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


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.


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


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.


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


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


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.


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


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


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.


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

Update: 1. August 2017