Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance

Citation
E. Aganna et al., Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance, EUR J HUM G, 9(1), 2001, pp. 63-66
Citations number
8
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
EUROPEAN JOURNAL OF HUMAN GENETICS
ISSN journal
1018-4813 → ACNP
Volume
9
Issue
1
Year of publication
2001
Pages
63 - 66
Database
ISI
SICI code
1018-4813(200101)9:1<63:TNFRPS>2.0.ZU;2-H
Abstract
Mutations of the tumor necrosis factor receptor 1 (TNFRSF1A) gene underly s usceptibility to a subset of autosomal dominant recurrent fevers (ADRFs). W e report on a two-generation six-member Dutch family in which a novel R92P mutation and reduced plasma TNFRSF1A levels were found in all the children, including two who are unaffected. However, only the daughter proband and f ather exhibited a typical TNF-receptor associated periodic syndrome (TRAPS) phenotype. PCR-RFLP analysis revealed that the mutation was not present in 120 control chromosomes from unaffected Dutch individuals. As this R92P mu tation is present in two unaffected carriers it appears to be less penetran t than previously reported TNFRSF1A mutations involving cysteine residues i n the extracellular domains.