Nature Publishing Group Mutations in MKKS cause bardetbiedl syndrome Anne M. Slavotinek 1 , Edwin M. Stone2 , Kirk Mykytyn 3 , John R. Heckenlively 4 , Jane S. Green 5 , Elise Heon http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v26/n1/full/ng0900_1
Correction: Mutations In MKKS Cause Bardet-Biedl Syndrome no. 2 p 193 Correction Mutations in MKKS cause bardetbiedl syndromeAM.Slavotinek et al. Nature Genet. 26, 1516 (2001). Two http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v28/n2/full/ng0601_1
Health Library - Bardet Biedl Syndrome Saint Luke's Health System eLibrary. Bardet Biedl Syndrome. bardetbiedl syndromeis a rare disorder inherited as an autosomal recessive genetic trait. http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h
Extractions: Information courtesy of "The Foundation for Fighting Blindness" Bardet-Biedl syndrome is a complex disorder that affects many parts of the body including the retina. Individuals with this syndrome have a retinal degeneration similar to retinitis pigmentosa (RP). The diagnosis of Bardet-Biedl syndrome is usually confirmed in childhood when visual problems due to RP are discovered. The first symptom of RP is night blindness. Night blindness makes it difficult to see in low light levels. RP then causes progressive loss of peripheral (side) vision. Peripheral vision loss is often referred to as tunnel vision. Individuals with Bardet-Biedl also experience central vision loss during childhood or adolescence. RP symptoms progress rapidly and usually lead to severe visual impairment by early adulthood. In addition to RP, polydactyly (extra fingers and/or toes) and obesity are defining characteristics of Bardet-Biedl syndrome. A diagnosis of Bardet-Biedl syndrome is usually first suspected when a child is born with polydactyly.
NEJM The Cardinal Manifestations Of Bardet-Biedl Syndrome, A The cardinal manifestations of bardetbiedl syndrome, a form of Laurence-Moon-Biedlsyndrome JS Green, PS Parfrey, JD Harnett, NR Farid, BC Cramer, G Johnson http://content.nejm.org/cgi/content/short/321/15/1002
Extractions: pa@bcm.tmc.edu Researchers identify first gene responsible for Bardet-Biedl Syndrome HOUSTON(Sept. 1, 2000)The first gene linked to a complex disorder called Bardet-Biedl syndrome could provide clues to health problems in the general population, including obesity, kidney disease, blindness, and mental retardation. In the September issue of the scientific journal Nature Genetics , an international team of investigators, led by Baylor College of Medicine's Drs. Nicholas Katsanis, Richard A. Lewis and James R. Lupski, identify the first of at least six genes responsible for the syndrome. BBS is a rare medical condition initially characterized by extra fingers and toes, profound weight gain as early as 6 to 7 months of age, and vision problems by age 6 or 7. "Finding the genetic cause of BBS has been extremely challenging," said Katsanis, with the department of molecular and human genetics. "Although 5 BBS loci, or locations of a gene within the human genome, have been reported, we had been unable to identify a specific gene." After years of research, identification of the gene eluded researchers until the recent announcement of a gene responsible for McKursick-Kaufman Syndrome, another rare disorder that shares a number of similarities with BBS.
Extractions: Mutation Databases Recent update from: 12.03.2003 In the recent past the number of mutations in genes underlying retinal disorders has increased. This page is intended to summarize these mutations. Below you will find links to subpages showing a collection of mutations sorted by proteins. The collection will be extend on demand.
Analysis Of Bardet-Biedl Syndrome 2 Analysis of bardetbiedl syndrome 2, G2D Home. GO TO CHROMOSOMAL REGION Diseasemapped bardet-biedl syndrome 2 Chromosome 16 Genomic position start-stop http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U583
Analysis Of Bardet-Biedl Syndrome 5 Analysis of bardetbiedl syndrome 5, G2D Home. GO TO CHROMOSOMAL REGION Diseasemapped bardet-biedl syndrome 5 Chromosome 2 Genomic position start-stop http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U428
Bardet-Biedl Syndrome / McKusick-Kaufman Syndrome - HUM-MOLGEN We are interested in locating families with either bardetbiedl syndrome or McKusick-KaufmanSyndrome for continuing linkage investigations and mutational http://www.hum-molgen.de/bb/Forum2/HTML/000048.html
12398-cpr 15 June 1998 bardetbiedl syndrome 4. We have recently cloned a new gene and suspectthat it could be responsible for the bardet-biedl syndrome 4 (BBS4). http://www.hum-molgen.de/clinical/15698-ncprr1.htm
Extractions: 15 June 1998 Editors note: NO IRB APPROVAL PROVIDED We have recently cloned a new gene and suspect that it could be responsible for the Bardet-Biedl syndrome 4 (BBS4). Please, send any reagents (cells, DNA samples etc) from BBS4 patients for mutational analysis on a collaborative basis. Many thanks. Michael Lerman, M.D.,Ph.D. Senior Investigator,NCI,DBS,LIB FCRDC, Bldg.560, Rm.12-68. Frederick, MD 21702 USA. tel:301-846-1288 fax: -6145.
Débats Listesnof : Syndrome De Laurence-Moon-Bardet-Biedl Translate this page 10/07/98. *209900 bardet-biedl syndrome,. TEXT. Renal abnormalities appear to havea high frequency in the bardet-biedl syndrome (Alton and McDonald, 1973). http://g5d.chez.tiscali.fr/COCNet10/COCMED10/lsnofLBB.htm
Extractions: sommaire Syndrome de Laurence-Moon-Bardet-Biedl Chers Amis Un conseil : http://www.healthgate.com/HealthGate/home.html Yannick LE MER Amicalement Chantal NOVEL Xavier ZANLONGHI Voir E.M.C. Ophtalmologie 21470 A 50, Les syndromes oculo-auditifs, page 12 Cordialement Georges LAROCHE Marc Abitbol avait fait une remarquable mise au point sur ces syndromes. Pourrait-il nous la redonner? ou notre webmaster? Alain BRON *209900 BARDET- BIEDL SYNDROME, TEXT This condition is characterized by mental retardation, pigmentary retinopathy, polydactyly, obesity, and hypogenitalism, and has incorrectly been called LMBB (Laurence-Moon-Bardet-Biedl) syndrome. Ammann (1970) pointed out that these features were present in the patients of Biedl (1922) and Bardet (1920), but that the patients of Laurence and Moon had a distinct disorder with paraplegia and without polydactyly and obesity (see Laurence-Moon syndrome, 245800). As indicated by Ammann's study, residual heterogeneity may exist even after the Laurence-Moon syndrome is separated. In Bedouin families in the Negev region of Israel, presumably the same kindreds as those studied by Kwitek-Black et al. (1993), Elbedour et al. (1994) performed echocardiographic evaluations of cardiac involvement in BBS. They stated that they found cardiac involvement in 50% of cases, justifying inclusion of echocardiographic examination in the clinical evaluation and follow-up of these patients. However, their table 1 gives echocardiographic abnormality in only 7 of 22 cases and these included 1 case of bicuspid aortic valve, 1 case of mild thickening of the interventricular septum, 1 case of 'moderate tricuspid regurgitation,' and 1 case of mild pulmonic valve stenosis. The occurrence of renal abnormality in 11 of the 22 patients on kidney ultrasonography was somewhat more impressive than the cardiac involvement.
Richard Alan Lewis, M.D., M.S. such as Stargardt Disease / Fundus Flavimaculatus (a form of juvenile maculardegeneration), the (LaurenceMoon-) bardet-biedl syndrome (retinal dystrophy http://imgen.bcm.tmc.edu/molgen/facultyaz/lewis.html
Extractions: M.S., University of Michigan, 1974 Last modified: July 2002 Research Interests Selected Publications Contact Information Research Interests: Dr. Lewis is an ophthalmologist at the Cullen Eye Institute and the Alkek Eye Center and a consultant in genetic eye disorders to the Kleberg Genetics Center at Texas Children's Hospital. His clinical practice of retinal and uveal diseases includes hereditary eye disease. He pioneered the mapping of X-linked ocular diseases, including X-linked Retinitis Pigmentosa, Choroideremia, the Oculo-Cerebro-Renal Syndrome of Lowe, Blue Cone Monochromacy, and the Nance-Horan X-linked cataract-dental syndrome. He was a substantial contributor to the isolation of the gene for X-linked (Nettleship-Falls) Ocular Albinism (OA1). Current investigations apply linkage strategies and the affected sibling-pair method to map and to isolate genes for recessively inherited ocular disorders, such as Stargardt Disease / Fundus Flavimaculatus (a form of juvenile macular degeneration), the (Laurence-Moon-) Bardet-Biedl syndrome (retinal dystrophy, obesity, polydactylia, developmental retardation, and renal disease), Rod Monochromacy (complete congenital achromatopsia), Fundus Albipunctatus (a form of hereditary nightblindness), and Leber Congenital Amaurosis. BBS1, the most common form of BBS, was mapped here and BBS6 was identified here first. The gene for Stargardt Disease was isolated and the role of this gene in Age-Related Macular Degeneration and autosomal and recessive forms of retinitis pigmentosa explored here first. In collaboration with
ORPHANET® : Bardet-Biedl Syndrome Translate this page ORPHANET. ORPHANET database access. bardet-biedl syndrome.Direct access to details Alias Home Page. http://www.orpha.net/static/GB/bardet_biedl.html
Service Page - Pathologie Information DISEASE bardetbiedl syndrome, Included disease(s) bardet-biedl syndrome,type 1 bardet-biedl syndrome, type 2 bardet-biedl syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=110
The Phenotype In Norwegian Patients With Bardet-Biedl Syndrome The Phenotype in Norwegian Patients With bardetbiedl syndrome With Mutations inthe BBS4 Gene Author Information Ruth Riise, MD, PhD; Kristina Tornqvist, MD http://archopht.ama-assn.org/issues/v120n10/abs/eog10010.html
NORD - National Organization For Rare Disorders, Inc. Confusion exists in the medical literature regarding the differencebetween LaurenceMoon Syndrome and bardet-biedl syndrome. Some http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Laurence Moon
