TY - JOUR
T1 - Familial mediterranean fever in two bedouin families
T2 - Mutation analysis and disease severity
AU - Press, Joseph
AU - Shinar, Yael
AU - Langevitz, Pnina
AU - Livneh, Avi
AU - Pras, Mordehai
AU - Buskila, Dan
PY - 2000/6/5
Y1 - 2000/6/5
N2 - Familial Mediterranean fever (FMF) is an autosomal recessive disease prevalent among non-Ashkenazi Jews, Armenians, Arabs, and Turks. The Bedouin are nomad Arab tribes residing in desert margins of the Middle East and Arabia. FMF is quite rare in Bedouins, and here we report on two Bedouin families from southern Israel suffering from this disorder. The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin. The disease severity score showed a mild to moderate severity disease in six patients. The Bedouins, leading a unique nomadic life, may prove instrumental in unraveling the role of environmental factors in the course and severity of FMF. (C) 2000 Wiley-Liss, Inc.
AB - Familial Mediterranean fever (FMF) is an autosomal recessive disease prevalent among non-Ashkenazi Jews, Armenians, Arabs, and Turks. The Bedouin are nomad Arab tribes residing in desert margins of the Middle East and Arabia. FMF is quite rare in Bedouins, and here we report on two Bedouin families from southern Israel suffering from this disorder. The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin. The disease severity score showed a mild to moderate severity disease in six patients. The Bedouins, leading a unique nomadic life, may prove instrumental in unraveling the role of environmental factors in the course and severity of FMF. (C) 2000 Wiley-Liss, Inc.
KW - Bedouins
KW - FMF
KW - MEFV
KW - Mutation analysis
UR - https://www.scopus.com/pages/publications/0034608287
U2 - 10.1002/(SICI)1096-8628(20000605)92:4<247::AID-AJMG4>3.0.CO;2-7
DO - 10.1002/(SICI)1096-8628(20000605)92:4<247::AID-AJMG4>3.0.CO;2-7
M3 - Article
C2 - 10842289
AN - SCOPUS:0034608287
SN - 0148-7299
VL - 92
SP - 247
EP - 249
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -