| Phenotype: | Pseudovaginal perineoscrotal hypospadias (5 alpha-Steroid reductase deficiency) |
|---|---|
| Dna Change: | IVS1-2A>G |
| Protein Change: | |
| Mutation Type: | Substitution |
| Mutation Effect: | Splice site |
| Location: | intron 1 |
| Transcript: | NM_000348.3 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Cyprus | Greek Cypriot origin | NA | 3 patients | NA | Skordis N et al., 2005Skordis N, Patsalis PC, Bacopoulou I, Sismani C, Sultan C, Lumbroso S, . 5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.. J. Pediatr. Endocrinol. Metab.. 2005; 18(3):241-6 |
| Cyprus | NA | NA | 5 patients/ 5 patients (carrier frequency was estimated to be 0.98% or 2 in 204) | NA | Skordis N et al., 2010Skordis N, Neocleous V, Kyriakou A, Efstathiou E, Sertedaki A, Philibert P, Phylactou LA, Lumbroso S, Sultan C, . The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.. J. Endocrinol. Invest.. 2010; 33(11):810-4 |
| Phenotype: | Pseudovaginal perineoscrotal hypospadias (5 alpha-Steroid reductase deficiency) |
|---|---|
| Dna Change: | c.100G>A |
| Protein Change: | p.Gly34Arg |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 1 |
| Transcript: | NM_000348.3 |
Gad YZ, Khairt R, Mazen I, Osman HG, Detection of the G34R mutation in the 5 alpha reductase 2 gene by allele specific PCR and its linkage to the 89L allele among Egyptian cases.Sex Dev. 2007; 1(5):293-6
Mazen I, Gad YZ, Hafez M, Sultan C, Lumbroso S, Molecular analysis of 5alpha-reductase type 2 gene in eight unrelated egyptian children with suspected 5alpha-reductase deficiency: prevalence of the G34R mutation.Clin. Endocrinol. (Oxf). 2003; 58(5):627-31
Skordis N, Neocleous V, Kyriakou A, Efstathiou E, Sertedaki A, Philibert P, Phylactou LA, Lumbroso S, Sultan C, The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.J. Endocrinol. Invest.. 2010; 33(11):810-4
Skordis N, Patsalis PC, Bacopoulou I, Sismani C, Sultan C, Lumbroso S, 5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.J. Pediatr. Endocrinol. Metab.. 2005; 18(3):241-6