Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

Putoux, Audrey; Attié‐Bitach, Tania; Martinovic, Jéléna; Gubler, Marie–Claire

doi:10.1007/s00467-010-1751-3

Cited by 74 publications

(76 citation statements)

References 69 publications

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“…[8,9] An age-related evolution of the phenotype is well documented in BBS, [1,6] and the younger age distribution of our cohort may have influenced this. Primary enuresis was common into late childhood and adolescence in our cohort, and likely reflects the recognised urinary concentration deficits that occur in BBS.…”

Section: The New Millenniummentioning

confidence: 77%

“…[5] Additional reports have expanded both the ocular and systemic phenotype. [6][7][8][9] BBS is typically an autosomal recessive disorder. Although oligogenic inheritance is described, it is a highly heterogeneous condition and to date 21 genes (BBS 1-19, NPHP1 and IFT172) that account for more than 80% of affected individuals have been implicated.…”

Section: To Prof Peter Beighton 'Do Genetics and See The World ' …mentioning

confidence: 99%

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Bardet Biedl syndrome in South Africa: A single founder mutation

et al. 2016

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Background. Bardet Biedl syndrome (BBS) is a multisystem disorder characterised by obesity, polydactyly, intellectual disability and loss of vision due to a progressive retinopathy. Although typically a highly heterogeneous autosomal recessive disease, homozygosity for single mutation in BBS 10 has been identified in a significant number of affected individuals tested in South Africa (SA). Objectives. To delineate the ethnic distribution and clinical phenotype in a cohort of SA BBS patients with the K243IfsX15 mutation in BBS 10 and discuss the implications for genetic testing of and counselling for this disorder in SA.Method. This was a descriptive cross-sectional study collating clinical and laboratory data retrospectively in a genetically homogenous subgroup of BBS patients from SA. Results. A total of 76 patients from 74 families were tested. Homozygosity for the K243IfsX15 BBS 10 mutation was found in 50 families (67%) and heterozygosity for the same mutation in an additional two affected individuals. With the exception of one patient of mixed ancestry, all were black South Africans from different language groups. This is in keeping with the observation that BBS is more common in this ethnic group compared with white and coloured patients in SA, first made by Prof. Beighton nearly 3 decades ago. A subset of 15 patients available for detailed phenotyping confirmed consistency with well-described features of the disorder, with some overlap with other ciliopathies. The onset of visual impairment was early in our cohort, before the age of 8 years, cognitive impairment was significant, and renal and cardiac abnormalities were infrequently encountered. Conclusion. The high frequency of homozygosity for a single mutation in an ethnic subset of the SA population is strongly suggestive of a founder effect. This has allowed establishment of a diagnostic test with a high yield in our local population. Better understanding of the phenotype will improve earlier recognition of the disorder to allow for appropriate intervention. Testing can confirm but not negate a clinical diagnosis, and can permit carrier and prenatal testing in informative families.

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Section: The New Millenniummentioning

confidence: 77%

Section: To Prof Peter Beighton 'Do Genetics and See The World ' …mentioning

confidence: 99%

Bardet Biedl syndrome in South Africa: A single founder mutation

et al. 2016

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“…4,6,[14][15][16][17] Birth weight is usually within the normal range, although there is an evidence of a skewed distribution towards the upper centiles. 18 One-third of those with a normal birth weight develop obesity by the age of one. 18 Although adult obesity tends to be truncal, it appears to be widespread and diffuse in childhood.…”

Section: Clinical Overviewmentioning

confidence: 99%

“…18 One-third of those with a normal birth weight develop obesity by the age of one. 18 Although adult obesity tends to be truncal, it appears to be widespread and diffuse in childhood.…”

Section: Clinical Overviewmentioning

confidence: 99%

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Bardet–Biedl syndrome

2012

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Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants

Khan

Focșa

Budişteanu

et al. 2023

American J of Med Genetics Pt A

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Bardet‐Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS is a rare (~1/140,000 to ~1/160,000 in Europe) autosomal recessive pediatric disorder characterized by retinal degeneration, truncal obesity, polydactyly, cognitive impairment, renal dysfunction, and hypogonadism. Twenty‐eight genes involved in ciliary structure or function have been implicated in BBS, and explain the molecular basis for ~75%–80% of individuals. To investigate the mutational spectrum of BBS in Romania, we ascertained a cohort of 24 individuals in 23 families. Following informed consent, we performed proband exome sequencing (ES). We detected 17 different putative disease‐causing single nucleotide variants or small insertion–deletions and two pathogenic exon disruptive copy number variants in known BBS genes in 17 pedigrees. The most frequently impacted genes were BBS12 (35%), followed by BBS4, BBS7, and BBS10 (9% each) and BBS1, BBS2, and BBS5 (4% each). Homozygous BBS12 p.Arg355* variants were present in seven pedigrees of both Eastern European and Romani origin. Our data show that although the diagnostic rate of BBS in Romania is likely consistent with other worldwide cohorts (74%), we observed a unique distribution of causal BBS genes, including overrepresentation of BBS12 due to a recurrent nonsense variant, that has implications for regional diagnostics.

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Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

Cited by 74 publications

References 69 publications

Bardet Biedl syndrome in South Africa: A single founder mutation

Bardet Biedl syndrome in South Africa: A single founder mutation

Bardet–Biedl syndrome

Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants

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