OMIM: 256500Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | SPINK5 |
|---|
| Dna Change: | c.891C>T |
|---|
| Protein Change: | p.Cys297Cys |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | |
|---|
| Location: | exon 11 |
|---|
| Transcript: | NM_001127698.1 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | NA | 2 patients/1 family | NA | Lacroix M et al., 2012Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van der Wier G, Bodemer C, Bygum A, Bursztejn AC, Gaitanis G, Paradisi M, Stratigos A, Weibel L, Deraison C, Hovnanian A, . Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.. J. Invest. Dermatol.. 2012; 132(3):575-82 |
| Greece | NA | NA | 6 patients/5 families | NA | Lacroix M et al., 2012Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van der Wier G, Bodemer C, Bygum A, Bursztejn AC, Gaitanis G, Paradisi M, Stratigos A, Weibel L, Deraison C, Hovnanian A, . Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.. J. Invest. Dermatol.. 2012; 132(3):575-82 |
| Greece | NA | NA | 6 patients/5 families | NA | Lacroix M et al., 2012Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van der Wier G, Bodemer C, Bygum A, Bursztejn AC, Gaitanis G, Paradisi M, Stratigos A, Weibel L, Deraison C, Hovnanian A, . Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.. J. Invest. Dermatol.. 2012; 132(3):575-82 |
| Italy | NA | NA | 1 patients/1 family | NA | Lacroix M et al., 2012Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van der Wier G, Bodemer C, Bygum A, Bursztejn AC, Gaitanis G, Paradisi M, Stratigos A, Weibel L, Deraison C, Hovnanian A, . Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.. J. Invest. Dermatol.. 2012; 132(3):575-82 |
References
Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van der Wier G, Bodemer C, Bygum A, Bursztejn AC, Gaitanis G, Paradisi M, Stratigos A, Weibel L, Deraison C, Hovnanian A, Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.J. Invest. Dermatol.. 2012; 132(3):575-82