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 |
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 |
Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
---|---|---|---|---|---|
Egypt | NA | Northeast | 3 patients/2 unrelated families | NA | Al-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 |
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