Gene: PMM2

Alternate names for this Gene: CDG1|CDG1a|CDGS|PMI|PMI1|PMM 2

Gene Summary: The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.2

Description of this Gene: phosphomannomutase 2

Type of Gene: protein-coding

rs104894525 in PMM2 gene and Congenital disorder of glycosylation type 1A PMID 10066032 1999 Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.

PMID 11058895 2000 Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

PMID 25355454 2015 A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

PMID 11350185 2001 Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 9781039 1998 Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.

PMID 10801058 2000 Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 10386614 1999 Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.

PMID 12357336 2002 DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

PMID 11058896 2000 PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 17307006 2007 Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

PMID 10571956 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.

PMID 9497260 1998 Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

PMID 21541725 2011 Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

PMID 16376131 2006 PMM2 intronic branch-site mutations in CDG-Ia.

PMID 16540464 2006 The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.

PMID 17166182 2007 Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.

PMID 12705494 2002 Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.

PMID 10602363 1999 We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1).

PMID 11156536 2001 High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 19862844 2009 Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

PMID 26629787 2016 Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.

PMID 19235233 2009 Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

PMID 18571450 2008 Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

PMID 12626389 2003 Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I.

PMID 28139241 2017 A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

PMID 23806237 2014 Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

PMID 18948042 2009 Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

PMID 25497157 2014 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

PMID 23430838 2011 The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.

PMID 11409861 2001 Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.

PMID 11715002 2002 Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

PMID 21949237 2011 Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.

PMID 16085795 2005 Defect of N-glycosylation is not directly related to congenital disorder of glycosylation Ia fibroblast sensitivity to staurosporine-induced cell death.

PMID 11134235 2001 A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

PMID 26206375 2015 GESPA: classifying nsSNPs to predict disease association.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

PMID 28122681 2017 Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 12607543 2003 Hair changes in congenital disorders of glycosylation (CDG type 1).

PMID 17920054 2007 Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs).

PMID 26502900 2015 Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

PMID 22012410 2012 Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

PMID 15645285 2005 Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema.

PMID 24739649 2014 Congenital disorders of glycosylation with neonatal presentation.

PMID 19357119 2009 Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).

PMID 19396570 2009 Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

PMID 13129599 2003 Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 17308246 2007 Radiologic and neurophysiologic aspects of stroke-like episodes in children with congenital disorder of glycosylation type Ia.

PMID 23045520 2012 Child Neurology: a case of PMM2-CDG (CDG 1a) presenting with unusual eye movements.

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 24037084 2014 Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).

PMID 22649348 2012 Macular hypoplasia in congenital disorder of glycosylation type ia.

PMID 15272470 2004 Congenital disorders of glycosylation (CDG): update and new developments.

PMID 15277997 2004 Screening for CDG type Ia in Joubert syndrome.

PMID 17451957 2007 Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.

PMID 10922383 2000 Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.

PMID 22801829 2012 Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency.

PMID 11350185 2001 Here we report an Asian patient with prominent systemic features that we diagnosed with CDG-Ia resulting from two new mutations in the PMM2 gene (310C --> G resulting in L104V and an intronic mutation IVS1-1G --> A).

PMID 11589167 2001 Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

PMID 11517108 2001 Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.

PMID 10602363 1999 We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1).

PMID 16825284 2006 An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

PMID 15844218 2005 Haplotype studies revealed a founder effect for E139K mutation, only described in France and found in seven CDG-Ia families (7.6%).

PMID 10571956 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.

rs148032587 in PMM2 gene and Dysmorphic features PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

rs3785176 in PMM2 gene and Glaucoma, Open-Angle PMID 25173107 2014 Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma.

rs28936415 in PMM2 gene and Movement Disorders PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

rs80338701 in PMM2 gene and Muscle hypotonia PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.