Gene Symbol: SPINK5
OMIM: 605010Chromosome location: 5q32
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Netherton syndrome |
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| Dna Change: | c.891C>T |
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| Protein Change: | p.Cys297Cys |
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| Mutation Type: | Substitution |
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| Mutation Effect: | |
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| Location: | exon 11 |
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| Transcript: | NM_001127698.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| 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