The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland

Klein, David C.; Ammann, F

doi:10.1016/0022-510x(69)90091-4

Cited by 220 publications

(132 citation statements)

References 26 publications

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“…40,41 It appears, however, much more frequent in inbred populations (1/13 500 among Bedouin of Koweit, and 1/18 000 in Newfoundland). 42,43 This could be owing to the combination of inbreeding, which raises the frequency of very rare recessive diseases, and possible founder effects.…”

Section: Discussionmentioning

confidence: 99%

Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

et al. 2006

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The extensive genetic heterogeneity of Bardet-Biedl syndrome (BBS) is documented by the identification, by classical linkage analysis complemented recently by comparative genomic approaches, of nine genes (BBS1-9) that account cumulatively for about 50% of patients. The BBS genes appear implicated in cilia and basal body assembly or function. In order to find new BBS genes, we performed SNP homozygosity mapping analysis in an extended consanguineous family living in a small Lebanese village. This uncovered an unexpectedly complex pattern of mutations, and led us to identify a novel BBS gene (BBS10). In one sibship of the pedigree, a BBS2 homozygous mutation was identified, while in three other sibships, a homozygous missense mutation was identified in a gene encoding a vertebrate-specific chaperonine-like protein (BBS10). The single patient in the last sibship was a compound heterozygote for the above BBS10 mutation and another one in the same gene. Although triallelism (three deleterious alleles in the same patient) has been described in some BBS families, we have to date no evidence that this is the case in the present family. The analysis of this family challenged linkage analysis based on the expectation of a single locus and mutation. The very high informativeness of SNP arrays was instrumental in elucidating this case, which illustrates possible pitfalls of homozygosity mapping in extended families, and that can be explained by the rather high prevalence of heterozygous carriers of BBS mutations (estimated at one in 50 in Europeans).

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Section: Discussionmentioning

confidence: 99%

Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

et al. 2006

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“…21 BBS is a relatively rare disorder with a prevalence that varies from one in 125 000 in the United Kingdom 22 to one in 160 000 in Switzerland. 23 The Newfoundland population is enriched for BBS with a prevalence of approximately one in 18 000. 1 The overall increased incidence of BBS in Newfoundland is not due to a single founder effect as shown by the scattered geographic distribution of the families 19,24 and the contribution of several BBS genes has been described: BBS1; 25,26 BBS2; 12 BBS3; 27 BBS5; 10 and four mutations in BBS6.…”

Section: Introductionmentioning

confidence: 99%

Bardet–Biedl syndrome 1 genotype and obesity in the Newfoundland population

Fan

Rahman

Peddle³

et al. 2004

Int J Obes

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BACKGROUND AND OBJECTIVES:Obesity is one of the primary clinical features of Bardet-Biedl Syndrome (BBS), a genetically heterogeneous disorder that is usually inherited as an autosomal recessive trait. It has been suggested that heterozygous carriers of BBS are predisposed to obesity. We set out to identify the common mutation in BBS1 families from southwest Newfoundland and to examine the relationship between this mutation and obesity in the general population. METHODS AND SUBJECTS:We genotyped BBS1 families from Newfoundland to determine the nature of the mutation causing BBS in this population. We then screened 200 obese individuals (average body mass index (BMI) ¼ 37.9 kg/m 2 ; average waist to hip ratio ¼ 0.935; average waist ¼ 113.8 cm) and 200 ethnically matched, unrelated, controls (average BMI ¼ 25.0 kg/m 2 ; average waist to hip ratio ¼ 0.896; average waist ¼ 86.9 cm) from the same geographic region for the presence of this mutation. RESULTS: All affected members of the six Newfoundland BBS1 families were homozygous for the most common BBS1 mutation (M390R). This mutation was found in the heterozygous state in three of the 200 obese individuals and also in three of the 200 matched controls. CONCLUSIONS: The high frequency of BBS1 in Newfoundland appears to be the result of a founder event. Our data do not support the hypothesis that the M390R BBS1 mutation plays a significant role in the frequency of obesity in the general public in Newfoundland.

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“…2 Glaucoma has been described in two patients with the AHS, an autosomal recessive disorder that presents photoreceptor dystrophy, obesity, diabetes mellitus, and deafness. 1 In fact, AHS may be considered a variant of BBS and not a nosologically independent syndrome. 1 This is founded on the presence of two cardinal symptoms that are common to both syndromes: RP and obesity.…”

Section: Discussionmentioning

confidence: 99%

“…1 In fact, AHS may be considered a variant of BBS and not a nosologically independent syndrome. 1 This is founded on the presence of two cardinal symptoms that are common to both syndromes: RP and obesity. Furthermore, deafness is found in approximately 5% of BBS patients, polydactyly may be seen in AHS patients and renal involvement, which is considered an important feature of BBS, may also be present in AHS, but generally it is diagnosed later in life (usually after 16 years of age).…”

Section: Discussionmentioning

confidence: 99%