Nishimura D Y, Searby C C, Carmi R, Elbedour K, Van Maldergem L, Fulton A B, Lam B L, Powell B R, Swiderski R E, Bugge K E, Haider N B, Kwitek-Black A E, Ying L, Duhl D M, Gorman S W, Heon E, Iannaccone A, Bonneau D, Biesecker L G, Jacobson S G, Stone E M, Sheffield V C
Department of Pediatrics and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA.
Hum Mol Genet. 2001 Apr 1;10(8):865-74. doi: 10.1093/hmg/10.8.865.
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.
巴德-比埃尔综合征（BBS）是一种具有遗传异质性的常染色体隐性疾病，主要临床特征为肥胖、色素性视网膜病变、多指（趾）畸形、生殖器发育不全、智力障碍和肾脏异常。该疾病的相关特征包括糖尿病、高血压和先天性心脏病。已知有六个BBS基因座，分别定位于2号、3号、11号、15号、16号和20号染色体。BBS2基因座最初是通过一个大的近亲贝都因家族定位于16号染色体长臂21区一个18厘摩的区间。对贝都因人群的进一步分析使得该基因座被精细定位于标记D16S408远端一个2厘摩的区域。对该区域进行物理图谱绘制和序列分析后，鉴定出了一些已知基因和表达序列标签簇。对一个具有广泛组织表达模式的新基因（BBS2）进行突变筛查发现，在两个近亲家系中存在纯合突变，其中包括最初用于鉴定BBS2基因座的那个大的贝都因家族。此外，在来自小核家庭的18名无关BBS先证者中有3人发现了突变。
