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Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis.
- Source :
- Acta Dermato-Venereologica; Nov2016, Vol. 96 Issue 7, p885-887, 3p
- Publication Year :
- 2016
-
Abstract
- Psoriasis is a multifactorial chronic inflammatory disease. Monogenic psoriasis has been described recently, including dominantly inherited plaque and generalized pustular types, related to activating mutations in the CARD14 gene. We describe here a family with CARD14-related psoriasis, exhibiting an extreme variability of clinical presentation (from mild plaque-type to generalized pustular psoriasis) and early disease onset. The affected family members harboured the c.349G>A [p.Gly117Ser] mutation in CARD14, which has not previously been linked to pustular psoriatic phenotype. Furthermore, most severely affected individuals carried 3 additional CARD14 coding region polymorphisms (rs2066964, rs34367357 and rs11652075), suggesting their possible effect on disease expression. Early-onset psoriasis co-segregated with the HLA-C*0602, indicating that HLA-C*0602 could potentially modulate the time of disease onset. In summary, this paper describes a family with CARD14-related psoriasis and discusses the possible influence of the specific haplotypes on intrafamilial variation in the clinical phenotype of the disease. [ABSTRACT FROM AUTHOR]
- Subjects :
- PSORIASIS
GENETIC polymorphisms
HAPLOTYPES
PHENOTYPES
HUMAN genetic variation
Subjects
Details
- Language :
- English
- ISSN :
- 00015555
- Volume :
- 96
- Issue :
- 7
- Database :
- Complementary Index
- Journal :
- Acta Dermato-Venereologica
- Publication Type :
- Academic Journal
- Accession number :
- 119162670
- Full Text :
- https://doi.org/10.2340/00015555-2405