Phenotype: Glycogen storage disease Ia


OMIM: 232200
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Gene Tests    Clinical Synopsis    Clinical Trials

G6PC || c.247C>T

Gene/Locus:    G6PC
Dna Change:    c.247C>T
Protein Change:    p.Arg83Cys
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 2
Transcript:    NM_000151.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
FranceNANA19% (allele frequency)NAChevalier-Porst F et al., 1996Chevalier-Porst F, Bozon D, Bonardot AM, Bruni N, Mithieux G, Mathieu M, Maire I, . Mutation analysis in 24 French patients with glycogen storage disease type 1a.. J. Med. Genet.. 1996; 33(5):358-60
TunisiaNANA66.6% (allele frequency)NABarkaoui E et al., 2007Barkaoui E, Cherif W, Tebib N, Charfeddine C, Ben Rhouma F, Azzouz H, Ben Chehida A, Monastiri K, Chemli J, Amri F, Ben Turkia H, Abdelmoula MS, Kaabachi N, Abdelhak S, Ben Dridi MF, . Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.. J. Inherit. Metab. Dis.. 2007; 30(6):989

G6PC || c.509G>A

Gene/Locus:    G6PC
Dna Change:    c.509G>A
Protein Change:    p.Arg170Gln
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 4
Transcript:    NM_000151.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA27.7% (allele frequency)NABarkaoui E et al., 2007Barkaoui E, Cherif W, Tebib N, Charfeddine C, Ben Rhouma F, Azzouz H, Ben Chehida A, Monastiri K, Chemli J, Amri F, Ben Turkia H, Abdelmoula MS, Kaabachi N, Abdelhak S, Ben Dridi MF, . Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.. J. Inherit. Metab. Dis.. 2007; 30(6):989

References

Barkaoui E, Cherif W, Tebib N, Charfeddine C, Ben Rhouma F, Azzouz H, Ben Chehida A, Monastiri K, Chemli J, Amri F, Ben Turkia H, Abdelmoula MS, Kaabachi N, Abdelhak S, Ben Dridi MF, Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.J. Inherit. Metab. Dis.. 2007; 30(6):989

Chevalier-Porst F, Bozon D, Bonardot AM, Bruni N, Mithieux G, Mathieu M, Maire I, Mutation analysis in 24 French patients with glycogen storage disease type 1a.J. Med. Genet.. 1996; 33(5):358-60