Familial Mediterranean fever in two Bedouin families: mutation analysis and disease severity.
PMID 10842289 | DOI 10.1002/(sici)1096-8628(20000605)92:4<247::aid-ajmg4>3.0.co;2-7 · American journal of medical genetics · 2000 · View on PubMed ↗
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Familial Mediterranean fever in two Bedouin families: mutation analysis and disease severity.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | M694I | “The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin.” | 0.82 | literature_variant_regex_v2 |
| variant | V726A | “The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin.” | 0.82 | literature_variant_regex_v2 |
| variant | E148Q | “The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin.” | 0.82 | literature_variant_regex_v2 |