Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study.
| Autor: | Jeske M; Pediatric Rheumatology, University Children's Hospital, Essen, Germany., Lohse P, Kallinich T, Berger T, Rietschel C, Holzinger D, Kamlah C, Lankisch P, Berendes R, Dueckers G, Horneff G, Lilienthal E, Haas JP, Giese A, Dressler F, Berrang J, Braunewell L, Neudorf U, Niehues T, Föll D, Lainka E |
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| Jazyk: | angličtina |
| Zdroj: | Klinische Padiatrie [Klin Padiatr] 2013 Nov; Vol. 225 (6), pp. 325-30. Date of Electronic Publication: 2013 Oct 24. |
| DOI: | 10.1055/s-0033-1355372 |
| Abstrakt: | Familial Mediterranean fever (FMF) is the most inherited common autoinflammatory disease (AID) with mutations in the MEFV (MEditerraneanFeVer) gene.The Mor- and Pras-Score modified for children and C-reactive protein (CRP) were used to assess FMF disease severity in Germany. We evaluate the applicability of the 2 severity scores and the correlations between ethnic origin, phenotype, and genotype.Among 242 children (median 5 age at diagnosis), we detected 431 pyrin mutations and 22 different sequence variants, including one new mutation (p.Gly488Asp). The 5 most -frequent alterations were p.Met694Val (55.2%), p.Met680lle (11.8%), p.Val726Ala (10%), p.Glu148Gln (7.9%) and p.Met694IIe (2.3%). The prevailing ancestries of 223 cases were Turkish (82.5%) and Lebanese (8.1%). Homozygous p.Met694Val substitution (30.2%) was associated with a more severe disease activity by Mor-Score, as well as with a higher mean CRP (74 mg/l) compared to patients with other mutations. Indeed, Mor- and Pras-Score were inconsistent with each other. A typical distribution of mutations in different ethnic populations was obvious, but not statistically verifiable due to the low number of cases.The homozygous p.Met694Val substitution was associated with a more severe disease activity in our German cohort. The common severity scores were inconsistent in -children. (© Georg Thieme Verlag KG Stuttgart · New York.) |
| Databáze: | MEDLINE |
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