| Gene/Locus: | SRD5A2 |
|---|---|
| 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 |
| Gene/Locus: | SRD5A2 |
|---|---|
| Dna Change: | c.100G>A |
| Protein Change: | p.Gly34Arg |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 1 |
| Transcript: | NM_000348.3 |
| Gene/Locus: | COL4A3 |
|---|---|
| Dna Change: | c.2611G>T |
| Protein Change: | p.Gly871Cys |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 32 |
| Transcript: | NM_000091.4 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Albania | NA | Northern (province of Bergam) | 43 unrelated families | from 3100 to 3350 years ago | Caleca L et al., 2014Caleca L, Putignano AL, Colombo M, Congregati C, Sarkar M, Magliery TJ, Ripamonti CB, Foglia C, Peissel B, Zaffaroni D, Manoukian S, Tondini C, Barile M, Pensotti V, Bernard L, Papi L, Radice P, . Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.. PLoS ONE. 2014; 9(2):e86924 |
Caleca L, Putignano AL, Colombo M, Congregati C, Sarkar M, Magliery TJ, Ripamonti CB, Foglia C, Peissel B, Zaffaroni D, Manoukian S, Tondini C, Barile M, Pensotti V, Bernard L, Papi L, Radice P, Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.PLoS ONE. 2014; 9(2):e86924
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