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.
References
French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nature Genet 17:25–31
Gershoni-Baruch R, Shinawi M, Shamaly H, Katsinetz L, Brik R (2002) Familial Mediterranean fever: The segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability. Am J Med Genet 109:198–201
International FMF Consortium (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90:797–807
Smith C (1953) The detection of linkage in human genetics. J R Stat Soc B 15:153–184
Zlotogora J, Hujerat Y, Barges S, Shalev SA, Chakravarti A (2007) The fate of 12 recessive mutations in a single village. Ann Hum Genet 71:202–208
Acknowledgements
This work was supported by grants from the Nationales Genomforschungsnetz 2 (NGFN2) to OST.
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Seidel, H., Steinlein, O.K. Compound heterozygosity for three common MEFV mutations in a highly consanguineous family with familial Mediterranean fever. Eur J Pediatr 167, 827–828 (2008). https://doi.org/10.1007/s00431-007-0572-2
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DOI: https://doi.org/10.1007/s00431-007-0572-2