BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
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DOI：
10.1086/341031
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发表时间：
2002-07-01
影响因子：
9.8
通讯作者：
Lupski, JR
中科院分区：
文献类型：
--
作者：
Katsanis, N;Eichers, ER;Lupski, JR
Bardet-Biedl综合征（BBS）是一种罕见的多系统疾病，主要特征是视网膜营养不良、肥胖、多指（趾）畸形和肾功能不全。BBS在历史上被建模为常染色体隐性遗传性状，在此前提下，六个独立的BBS基因座（BBS 1-BBS 6）已被定位在人类基因组中。然而，扩展的突变分析BBS 2和BBS 6，前两个BBS基因克隆，表明BBS表现出更复杂的遗传模式，其中三个突变在两个位点同时是必要的，并足以在一些家庭中表现的表型。我们通过单倍型分析和突变筛查相结合，对177个家庭的多种族队列评估了最近发现的BBS 4基因的突变谱。与先前遗传分析的预测一致，我们的数据表明，BBS 4的突变有助于BBS，
Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction. BBS has been modeled historically as an autosomal recessive trait, under which premise six independent BBS loci (BBS1-BBS6) have been mapped in the human genome. However, extended mutational analyses of BBS2 and BBS6, the first two BBS genes cloned, suggest that BBS exhibits a more complex pattern of inheritance, in which three mutations at two loci simultaneously are necessary and sufficient in some families to manifest the phenotype. We evaluated the spectrum of mutations in the recently identified BBS4 gene with a combination of haplotype analysis and mutation screening on a multiethnic cohort of 177 families. Consistent with predictions from previous genetic analyses, our data suggest that mutations in BBS4 contribute to BBS in