Disease relevance of Arabs

• Among 59 closely related members of one Bedouin tribe, we identified 9 who had the characteristic features of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [1].
• Familial hypomagnesemia with secondary hypocalcemia (HSH) (MIM 307600) was studied in three inbred Bedouin kindreds from Israel. The three kindreds, one extended and two nuclear families, contained 13 affected individuals, 11 males and two females [2].
• Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a renal phosphate (Pi) wasting disease first described in an extended Bedouin kindred, is characterized by hypophosphatemia, elevated serum 1,25-dihydroxyvitamin D levels, hypercalciuria, rickets, and osteomalacia [3].
• We report a consanguineous Arab Bedouin family with Desbuquois syndrome, an AR syndrome of a midface hypoplasia and joint laxity [4].
• Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family--a new syndrome [5].

Psychiatry related information on Arabs

• We also review previously reported 44 Arab/Bedouin patients with the same profile of hypoparathyroidism, short stature, seizures, mental retardation and microcephaly [6].
• Comparisons of Bedouin adolescents to Palestinian adolescents from the West Bank and Gaza suggest that for older adolescents the impact of extreme social change on mental health adjustment generally parallels that of both chronic social conflict (West Bank) and that of violent war-like conditions (Gaza) [7].

High impact information on Arabs

• The mutation, which is in full segregation in seven Bedouin families affected by the disorder, converts a negatively charged aspartic acid into a positively charged histidine, in a highly negatively charged domain, and is likely to exert its deleterious effect by disrupting Ca(2+) binding [8].
• Early-onset and persistent hypocomplementemia in this Bedouin kindred prompted us to evaluate the CFH gene [9].
• Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel [10].
• Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus [11].
• In this study, we we utilized a DNA pooling approach using DNA samples from a highly inbred Bedouin kindred to identify a new Bardet-Biedl syndrome locus on chromosome 15 [12].

Chemical compound and disease context of Arabs

• Moreover, thyroxine-binding globulin deficiency was found to be more common than congenital hypothyroidism among the Bedouin [13].

Biological context of Arabs

• The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred [11].
• Linkage analysis indicated that the two NPT2 intragenic SNP as well as five microsatellite markers in the NPT2 gene region were not linked to HHRH in the Bedouin kindred [3].
• A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred [14].
• The HLA DQA1 DQB1 high-risk genotypes associated with celiac disease are similar in these Bedouin families with CD to what is observed in Northern and Southern Europeans [15].
• Single nucleotide polymorphism study of IDDM 17 in a Bedouin Arab family [16].

Associations of Arabs with chemical compounds

• A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel [17].
• 25-Hydroxycholecalciferol levels in bedouins in the Negev [18].
• Bedouin mothers and infants had significantly lower levels of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D than did Jewish mothers and infants [19].
• Four members of an extended consanguineous Bedouin family presented with different phenotypic variants of an autosomal recessive lysosomal free sialic acid storage disease [14].
• A higher proportion of Bedouin than Jewish infants had serum retinol <0.7 and <0.35 micromol/l (both p<0.001) [20].

Gene context of Arabs

• We investigated families with iACTHR (n = 4) and AS (n = 6) and a Bedouin family with ACTHR and a known defect of the TSH receptor [21].
• In a set of nine Bedouin multiplex celiac disease families and one simplex, we genotyped DNA samples at HLA DQA1 and DQB1 [15].
• The frequencies of predicted UMs (duplication of CYP2D6) were 17.8% (5/28) and 12.8% (6/47) in Ethiopian Jews and Sephardic Jews, respectively, which were higher than that of Yemenite Jews (5.6%, 2/36) and Bedouins (4.0%, 2/50) [22].
• We have recently described a novel autosomal recessive disorder, lethal congenital contractural syndrome type 2 (LCCS2) (OMIM 607598), in a large Israeli Bedouin kindred [23].
• We performed a genomewide linkage scan combined with homozygosity mapping, using genomic DNA from a large consanguineous Bedouin kindred that included 10 patients who received the diagnosis of HHRH [24].

Analytical, diagnostic and therapeutic context of Arabs

• Modulation of plasma arginine vasopressin during rehydration in the Bedouin goat [25].

References