Bardet-Biedl syndrome

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Bardet-Biedl syndrome
ICD-10 Q87.8
ICD-9 759.89
OMIM 209900
DiseasesDB 7286
MeSH D020788

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-In-Chief: Aarti Narayan, M.B.B.S [2]

Synonyms and keywords: Laurence-Moon-Biedl syndrome; Laurence-Moon-Biedl-Bardet; LMBBS; LMBS;BBS

Overview

The Bardet-Biedl syndrome is a genetic disorder characterized mainly by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, renal dysplasia and renal failure in some cases.[1]

Historical Perspective

The syndrome is named after Georges Bardet and Arthur Biedl.[2] The first known case was reported by Laurence and Moon in 1866 at the Ophthalmic Hospital in South London. Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in that patients of Laurence and Moon had paraplegia but no polydactyly and obesity which are the key elements of the Bardet-Biedl the syndrome. Laurence-Moon syndrome is usually considered a separate entity. However, some recent research suggests that the two conditions may not be distinct.[3]

Classification

Two forms have been identified:

Pathophysiology

  • Even though the detailed biochemical mechanism that leads to BBS is unclear, the syndrome is thought to result largely from a defect in basal body of ciliated cells.
  • The gene products encoded by these BBS genes (BBS1 to BBS8, called BBS proteins, are located in the basal body and cilia of the cell.[4]
  • Using the round worm C. elegans as a model system, biologists found that BBS proteins are involved in a process called Intraflagellar transport (IFT), a bi-directional transportation activity within the cilia along the long axis of the ciliary shaft that is essential for ciliogenesis and the maintenance of cilia.[5] Recent biochemical analysis of human BBS proteins revealed that BBS proteins are assembled into a multiple protein complex, called "BBSome". BBSome is proposed to be responsible for transporting intracellular vesicles to the base of the cilia and to play an important role in the ciliary function.Template:Cn
  • The syndrome is familial and is transmitted as an autosomal recessive trait. chromosome 3 locus appears to be linked to polydactyly of all four limbs, whereas chromosome 15 is associated with early-onset morbid obesity and is mostly confined to the hands, and chromosome 16 represents the "leanest" form.
  • Since abnormalities of cilia are known to be related to a wide range of disease symptoms including those commonly seen in BBS patients, it is now widely accepted that mutated BBS genes affect normal cilia functions, which, in turns, causes BBS.Template:Citation needed
  • Genes involved include:Template:Cn

Relation to other rare genetic disorders

Differentiating Bardet-Biedl syndrome from other Diseases

  • Bardet–Biedl syndrome (BBS) and Laurence–Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism.
  • They are differentiated by the presence of spasticity and the absence of polydactyly in LMS.
  • The overlapping features of these cases suggested that the two disorders represented variable expression of a single condition.
  • The findings of neurological manifestations in BBS patients has prompted hypotheses that LMS and BBS are allelic.[7]

Epidemiology and Demographics

  • Bardet-Biedl syndrome has a prevalence of 1 in 125,000- 160,000 in Europe[8], whereas in Arab countries, it is about 1 in 165,000 population.[9]

Diagnosis

Symptoms

Physical Examination

Appearance of the Patient

Vital Signs

Eyes

Nose

Heart

Extremities

Neurologic

Genitourinary examination

Laboratory Findings

Ultrasound

Echocardiogram

Other tests

June 2006 Conference

  • The LMBBS Association Family Meeting for non-medical-professionals was held in Houston, Texas, June 16-17, 2006.
The conference was sponsored by a steering committee of BBS folk and parents/grandparents of children with BBS. It was directed to a lay audience.
A primary purpose of the conference was to present the latest medical research results in an accessible fashion. This included one morning of presentations by leading BBS genetic researchers Dr. Richard Lewis (Baylor Medical Center, Houston) and Dr. Nicholas Katsanis (Johns Hopkins University, Baltimore, Maryland). Several additional doctors presented accessible information on growth and weight management; kidney issues; obesity & Syndrome X; pediatric bariatric surgery; and speech pathology & therapy.
Location: Cullen Eye Institute, Baylor College of Medicine, Houston, Texas.
For additional information about the meeting, click here.

References

  1. Beales P, Elcioglu N, Woolf A, Parker D, Flinter F (1999). "New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey". J. Med. Genet. 36 (6): 437-46. PMID 10874630.
  2. synd/3745 at Who Named It
  3. Moore S, Green J, Fan Y et al (2005). "Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study". Am. J. Med. Genet. A 132 (4): 352-60. PMID 15637713.
  4. Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (October 2003). "Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome". Nature 425 (6958): 628–33. doi:10.1038/nature02030. PMID 14520415.
  5. Blacque OE, Reardon MJ, Li C, McCarthy J, Mahjoub MR, Ansley SJ, Badano JL, Mah AK, Beales PL, Davidson WS, Johnsen RC, Audeh M, Plasterk RH, Baillie DL, Katsanis N, Quarmby LM, Wicks SR, Leroux MR. (2004). "Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport". Genes Dev. 18 (13): 1630–42. doi:10.1101/gad.1194004. PMID 15231740.
  6. Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). "The ciliopathies: an emerging class of human genetic disorders". Annu Rev Genomics Hum Genet 7: 125–48. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803.
  7. Moore SJ, Green JS, Fan Y, et al. (February 2005). "Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study". American Journal of Medical Genetics. Part a 132 (4): 352–60. doi:10.1002/ajmg.a.30406. PMID 15637713.
  8. Klein D, Ammann F (1969). "The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies". Journal of the Neurological Sciences 9 (3): 479–513. PMID 5367041.
  9. Farag TI, Teebi AS (February 1988). "Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population". Clinical Genetics 33 (2): 78–82. PMID 3359670.

External links

da:Moon-Bardet-Biedl syndrom

de:Laurence-Moon-Biedl-Bardet-Syndromnl:Syndroom van Laurence-Moon-Bardet-Biedl fi:Bardet-Biedlin oireyhtymä



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