Gene: lamin A/C; LMNA


Gene Symbol: LMNA
OMIM: 150330
Chromosome location: 1q22

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Charcot-Marie-Tooth disease, type 2B1 || c.892C>T

Phenotype:    Charcot-Marie-Tooth disease, type 2B1
Dna Change:    c.892C>T
Protein Change:    p.Arg298Cys
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 5
Transcript:    NM_170707.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlgeriaNANA3 families/23 familiesNADe Sandre-Giovannoli A et al., 2002De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N, . Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.. Am. J. Hum. Genet.. 2002; 70(3):726-36
AlgeriaNANA3 families/23 familiesNADe Sandre-Giovannoli A et al., 2002De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N, . Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.. Am. J. Hum. Genet.. 2002; 70(3):726-36
AlgeriaNANA42 Patients/25 familiesNAHamadouche T et al., 2008Hamadouche T, Poitelon Y, Genin E, Chaouch M, Tazir M, Kassouri N, Nouioua S, Chaouch A, Boccaccio I, Benhassine T, De Sandre-Giovannoli A, Grid D, Lévy N, Delague V, . Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.. Ann. Hum. Genet.. 2008; 72(0):590-7
MoroccoNANA4 families/13 familiesNABouhouche A et al., 2007Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E, . Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.. Brain. 2007; 130(0):1062-75

Mandibuloacral dysplasia || c.1580G>T

Phenotype:    Mandibuloacral dysplasia
Dna Change:    c.1580G>T
Protein Change:    p.Arg527Leu
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 9
Transcript:    NM_170707.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
EgyptNANortheast3 patients/2 unrelated familiesNAAl-Haggar M et al., 2012Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M, . A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.. Eur. J. Hum. Genet.. 2012; 20(11):1134-40

References

Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M, A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.Eur. J. Hum. Genet.. 2012; 20(11):1134-40

Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E, Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.Brain. 2007; 130(0):1062-75

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N, Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.Am. J. Hum. Genet.. 2002; 70(3):726-36

Hamadouche T, Poitelon Y, Genin E, Chaouch M, Tazir M, Kassouri N, Nouioua S, Chaouch A, Boccaccio I, Benhassine T, De Sandre-Giovannoli A, Grid D, Lévy N, Delague V, Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.Ann. Hum. Genet.. 2008; 72(0):590-7