| Phenotype: | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |
|---|---|
| Dna Change: | c.955C>T |
| Protein Change: | p.Gln319X (Q318X) |
| Mutation Type: | Substitution |
| Mutation Effect: | Nonsense |
| Location: | exon 8 |
| Transcript: | NM_000500.7 |
| Phenotype: | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |
|---|---|
| Dna Change: | c.293-13C>G (c.IVS2+13A/C>G) |
| Protein Change: | |
| Mutation Type: | Substitution |
| Mutation Effect: | Splice site |
| Location: | intron 2 |
| Transcript: | NM_000500.7 |
| Phenotype: | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |
|---|---|
| Dna Change: | c.2T>C |
| Protein Change: | p.Met1? |
| Mutation Type: | Substitution |
| Mutation Effect: | |
| Location: | exon 1 |
| Transcript: | NM_000500.7 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Turkey | NA | NA | 6 families/45 families | NA | Toraman B et al., 2013Toraman B, Ökten A, Kalay E, Karagüzel G, Dinçer T, Açıkgöz EG, Karagüzel A, . Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.. Gene. 2013; 513(1):202-8 |
| Phenotype: | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |
|---|---|
| Dna Change: | |
| Protein Change: | R444X |
| Mutation Type: | Substitution |
| Mutation Effect: | Nonsense |
| Location: | |
| Transcript: | NM_000500.4 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Spain | NA | NA | 7 patients/138 unrelated patients | NA | Loidi L et al., 2006Loidi L, Quinteiro C, Parajes S, Barreiro J, Lestón DG, Cabezas-Agrícola JM, Sueiro AM, Araujo-Vilar D, Catro-Feijóo L, Costas J, Pombo M, Domínguez F, . High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.. Clin. Endocrinol. (Oxf). 2006; 64(3):330-6 |
Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L, CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.Clin. Chem. Lab. Med.. 2008; 46(12):1707-13
Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A, Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.Horm. Res.. 2000; 53(2):77-82
Ezquieta B, Cueva E, Oyarzábal M, Oliver A, Varela JM, Jariego C, Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21-hydroxylase deficiency) in the Spanish population.Clin. Genet.. 2002; 62(2):181-8
Kharrat M, Tardy V, M'Rad R, Maazoul F, Jemaa LB, Refaï M, Morel Y, Chaabouni H, Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.J. Clin. Endocrinol. Metab.. 2004; 89(1):368-74
Loidi L, Quinteiro C, Parajes S, Barreiro J, Lestón DG, Cabezas-Agrícola JM, Sueiro AM, Araujo-Vilar D, Catro-Feijóo L, Costas J, Pombo M, Domínguez F, High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.Clin. Endocrinol. (Oxf). 2006; 64(3):330-6
Toraman B, Ökten A, Kalay E, Karagüzel G, Dinçer T, Açıkgöz EG, Karagüzel A, Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.Gene. 2013; 513(1):202-8