Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci

American Journal of Medical Genetics
R CarmiV C Sheffield

Abstract

Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of mental retardation, obesity, retinal dystrophy, polydactyly, and hypogenitalism. Renal and cardiac abnormalities are also frequent in this disorder. Previous clinical suggestions of heterogeneity of BBS were confirmed recently by the identification of four different chromosome loci linked to the disease. In this study we compared clinical manifestations of the syndrome in patients from 3 unrelated, extended Arab-Bedouin kindreds which were used for the linkage mapping of the BBS loci to chromosomes 3, 15, and 16. The observed differences included the limb distribution of the postaxial polydactyly and the extent and age-association of obesity. It appears that the chromosome 3 locus is associated with polydactyly of all four limbs, while polydactyly of the chromosome 15 type is mostly confined to the hands. On the other hand, the chromosome 15 type is associated with early-onset morbid obesity, while the chromosome 16 type appears to present the "leanest" form of BBS. Future cloning of the various BB genes will contribute to the understanding of the molecular basis of limb development and to the identification of human obesity-related genes.

References

Jan 1, 1991·Mammalian Genome : Official Journal of the International Mammalian Genome Society·J M FriedmanN Bahary
May 1, 1990·American Journal of Medical Genetics·J B Croft, M Swift
Jan 14, 1989·BMJ : British Medical Journal·T I SørensenF Schulsinger
Oct 12, 1989·The New England Journal of Medicine·J S GreenW Pryse-Phillips
Sep 8, 1988·The New England Journal of Medicine·J D HarnettP S Parfrey
Feb 1, 1982·Archives of Ophthalmology·A P Schachat, I H Maumenee
Aug 15, 1994·American Journal of Medical Genetics·K ElbedourR Carmi

❮ Previous
Next ❯

Citations

Feb 21, 2008·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Neena B HaiderPatsy M Nishina
Jul 15, 1998·Ophthalmology·I M Russell-EggittJ F Taylor
Dec 22, 1999·Matrix Biology : Journal of the International Society for Matrix Biology·P LorenzoD Heinegård
Oct 17, 1998·Eye·M P Simunovic, A T Moore
Nov 16, 2006·European Journal of Human Genetics : EJHG·Dominic R A WhiteEamonn R Maher
May 8, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·P DarS J Gross
Feb 2, 2011·Human Molecular Genetics·Pamela R PretoriusDiane C Slusarski
Nov 30, 2000·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·P L BealesA S Woolf
Aug 27, 2009·Clinical Dysmorphology·Mathew Punnachalil Cherian, Nouriya A Al-Sanna'a
May 1, 1997·The British Journal of Ophthalmology·R RiiseK Tornqvist
Feb 1, 1997·Journal of Medical Genetics·P L BealesF A Flinter
May 21, 2009·Annual Review of Genomics and Human Genetics·Guy RosnerAvi Orr-Urtreger
Jan 7, 2011·The Journal of Clinical Endocrinology and Metabolism·Penelope P FeuillanLeslie G Biesecker
Mar 25, 2010·PLoS Genetics·Pamela R PretoriusDiane C Slusarski
Apr 12, 2006·Proceedings of the National Academy of Sciences of the United States of America·Annie P ChiangVal C Sheffield
Feb 7, 2014·Cellular and Molecular Life Sciences : CMLS·Olga AksanovRuth Z Birk
Nov 11, 2003·American Journal of Medical Genetics. Part a·András TárnokIstván Domán
Mar 3, 2007·Seminars in Pediatric Neurology·Andrea L Gropman, David R Adams
Mar 24, 2007·The International Journal of Biochemistry & Cell Biology·Efrat FortiRuth Z Birk
Mar 13, 2014·Clinical Genetics·E ForsytheP L Beales
Feb 2, 2010·Human Mutation·Tina Duelund HjortshøjKaren Brøndum-Nielsen
Jun 18, 2015·Journal of Medical Genetics·Sheila Castro-SánchezDiana Valverde
Sep 19, 2000·American Journal of Obstetrics and Gynecology·E Z Zimmer, M Bronshtein
Jan 1, 1997·Obesity Research·L PérusseC Bouchard
Jun 21, 2016·The British Journal of Nutrition·Edwin C M MarimanPing Wang
Mar 28, 2017·Obesity Reviews : an Official Journal of the International Association for the Study of Obesity·Y KaurD Meyre
Apr 4, 2017·IUBMB Life·Netta NahumRuth Birk
Feb 4, 2005·American Journal of Medical Genetics. Part a·Elise HéonVal C Sheffield
Apr 23, 1999·American Journal of Medical Genetics·S Manouvrier-HanuJ Lefevre
Sep 4, 2008·Ophthalmic Genetics·Paul S CannonI Christopher Lloyd
Nov 13, 2014·Médecine sciences : M/S·Kirsley ChennenVincent Marion
Dec 5, 2000·American Journal of Medical Genetics·A M Slavotinek, L G Biesecker
Dec 8, 1998·American Journal of Medical Genetics·J Zlotogora

❮ Previous
Next ❯

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