Gene: serine peptidase inhibitor, Kazal type 5; SPINK5


Gene Symbol: SPINK5
OMIM: 605010
Chromosome location: 5q32

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Netherton syndrome || c.891C>T

Phenotype:    Netherton syndrome
Dna Change:    c.891C>T
Protein Change:    p.Cys297Cys
Mutation Type:    Substitution
Mutation Effect:   
Location:    exon 11
Transcript:    NM_001127698.1

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
FranceNANA2 patients/1 familyNALacroix 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
GreeceNANA6 patients/5 familiesNALacroix 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
GreeceNANA6 patients/5 familiesNALacroix 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
ItalyNANA1 patients/1 familyNALacroix 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