Bardet-Biedl syndrome

Chiang AP, Beck JS, Yen HJ et al. Elomozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBSll). Proc Natl Acad Sci USA 2006 103 6287-6292. 

Typically, overweight children are tall for their age when compared with their peers of the same sex and age. If a child is short and overweight, then further studies should be done to exclude a genetically determined problem such as Prader-Willi or Bardet-Biedl syndrome. 

Bardet-Biedl syndrome proteins in ciliary protein complexes... 224... 

Beales, P.L. (2005) Lifting the lid on Pandora s box the Bardet-Biedl syndrome. Curr. Opin. Genet. Dev. 75,315-323. 

Beales, P.L., Elcioglu, N., Woolf, A.S., Parker, D. and Flinter, F.A. (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome results of a population survey. J. Med. Genet. 56, 437 46. 

Blacque, O.E. and Leroux, M.R. (2006) Bardet-Biedl syndrome an emerging pathomechanism of intracellular transport. Cell. Mol. Life Sci. 63, 2145-2161. 

Green, J.S., Parfiey, P.S., Harnett, J.D., Farid, N.R., Cramer, B.C., Johnson, G., Heath, O., McManamon, P.J., O Leary, E. and Pryse-Phillips, W. (1989) The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N. Engl. J. Med. 321, 1002-1009. 

Chiang, A. P., Nishimura, D., Searby, C., Elbedour, K., Carmi, R., Ferguson, A. L., Secrist, J., Braun, T., Casavant, T., Stone, E. M., and Sheffield, V. C. (2004). Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBSS). Am. J. Hum. Genet. 75, 475 84. 

Bardet-Biedl syndrome Obesity, pigmentary retinopathy, polydactyly, hypogenitalism Ectopic urethra, cystic kidney AR (209900), heterogeneous with 12 types BBSl-12 identified... 

Polycystic kidney diseases can also be detected in utero. In the typical presentation of the recessive type, the kidneys are very large (4-4 - -F8 SD) with increased echogenicity and lack of cortico-medul-lary differentiation more unusual presentations include the presence of medullary cysts or reversed cortico-medullary differentiation (Fig. 13.15) oligohydramnios and lung hypoplasia indicate a poor prognosis. In the dominant type, the renal cortex appears hyperechoic, increasing the cortico-medul-lay differentiation. Cysts may be detected in utero. Other cystic diseases are usually related to syndromes (i.e., Meckel-Gruber syndrome and Bardet-Biedl syndrome) (Avni et al. 2006). 

Bardet-Biedl syndrome (9) Lesh-Nyhan syndrome Foetal hamartomatosis Urate NP (6)... 

Syndromes in which obesity is a major component are extremely rare. Prader-Willi, Simpson-Goabi-Behmel, Cohen s, Bardet-Biedl, Carpenter s, Borjeson s, and Wilson-Tumer syndromes have all been associated with obesity. Of these, Prader-Willi syndrome is the most common and has a frequency of 1 in 20,000 live births. Other phenotypic features include changes in stature, mental retardation, and developmental abnormalities (e.g., hypogonadism). Because the incidence of thes syndromes is rare, even collectively they contribute very little to the incidence of obesity. The chnician evaluating a... 

Kaufmann-McKusick syndrome Hydrometrocolpos, transverse vaginal membrane, vaginal septum, postaxial polydactyly, cardiac anomalies, hypospadias Hydroureter, ureteral duplication, ectopic urethra, urogenital sinus, posterior urethral valves AR (236700), mutations in Bardet-Biedl type 6 BBS6 gene... 

Syndromal cysts Meckel syndrome, Lawrence-Moon-Biedl-Bardet syndrome, Ivemark syndrome, Zellweger syndrome, tuberous sclerosis, Hippel- Lindaus disease... 

Other hereditary diseases with glomerular involvement, like nail patella syndrome, collagen type III glomerulopathy, Fabry disease, and Biedl-Bardet syndrome, are very rare and beyond the scope of this chapter. 

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