Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2) Export

@article{Nishimura2001, abstract = {Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred. Further analysis of the Bedouin population allowed for the fine mapping of this locus to a 2 cM region distal to marker D16S408. Physical mapping and sequence analysis of this region resulted in the identification of a number of known genes and expressed sequence tag clusters. Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus. In addition, mutations were found in three of 18 unrelated BBS probands from small nuclear families.}, author = {Nishimura, D. Y. and Searby, C. C. and Carmi, R. and Elbedour, K. and Van Maldergem, L. V. and Fulton, A. B. and Lam, B. L. and Powell, B. R. and Swiderski, R. E. and Bugge, K. E. and Haider, N. B. and Black, A. E. Kwitek and Ying, L. and Duhl, D. M. and Gorman, S. W. and Heon, E. and Iannaccone, A. and Bonneau, D. and Biesecker, L. G. and Jacobson, S. G. and Stone, E. M. and Sheffield, V. C.}, citeulike-article-id = {168173}, journal = {Hum Mol Genet}, keywords = {bbs, bibtex-import, cilia, human}, number = {8}, pages = {865--74}, pdf = {Nishimura2001.pdf}, posted-at = {2005-04-23 06:42:28}, priority = {0}, title = {Positional cloning of a novel gene on chromosome 16q causing {B}ardet-{B}iedl syndrome ({BBS}2)}, volume = {10}, year = {2001} }

TY - JOUR ID - Nishimura2001 L3 - citeulike-article-id:168173 N2 - Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred. Further analysis of the Bedouin population allowed for the fine mapping of this locus to a 2 cM region distal to marker D16S408. Physical mapping and sequence analysis of this region resulted in the identification of a number of known genes and expressed sequence tag clusters. Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus. In addition, mutations were found in three of 18 unrelated BBS probands from small nuclear families. IS - 8 JF - Hum Mol Genet EP - 74 TI - Positional cloning of a novel gene on chromosome 16q causing {B}ardet-{B}iedl syndrome ({BBS}2) VL - 10 SP - 865 KW - bbs KW - bibtex-import KW - cilia KW - human AU - Nishimura, DY AU - Searby, CC AU - Carmi, R AU - Elbedour, K AU - Van Maldergem, LV AU - Fulton, AB AU - Lam, BL AU - Powell, BR AU - Swiderski, RE AU - Bugge, KE AU - Haider, NB AU - Black, Kwitek AU - Ying, L AU - Duhl, DM AU - Gorman, SW AU - Heon, E AU - Iannaccone, A AU - Bonneau, D AU - Biesecker, LG AU - Jacobson, SG AU - Stone, EM AU - Sheffield, VC PY - 2001/// ER -