Compound heterozygosity for three common MEFV mutations in a highly consanguineous family with familial Mediterranean fever.

Abstract:

:Consanguinity is not the only factor influencing the occurrence of autosomal recessive disorders such as familial Mediterranean fever (FMF). The extended, multiple consanguineous Turkish pedigree presented here demonstrates that the population frequency of certain mutations (so-called "ancient" mutations) can be at least equally important. In high-risk populations different combinations of mutations can occur within the same family, increasing not only the intrafamilial clinical variability, but also causing considerable recurrence risks even in marriages with unrelated spouses.

journal_name

Eur J Pediatr

authors

Seidel H,Steinlein OK

doi

10.1007/s00431-007-0572-2

subject

Has Abstract

pub_date

2008-07-01 00:00:00

pages

827-8

issue

7

eissn

0340-6199

issn

1432-1076

journal_volume

167

pub_type

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