Katsanis Nicholas
Institute of Genetic Medicine and Wilmer Eye Institute, Johns Hopkins University, 600 North Wolfe Street, Baltimore, MD 21287, USA.
Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. doi: 10.1093/hmg/ddh092. Epub 2004 Feb 19.
Bardet-Biedl syndrome (BBS: OMIM 209900) is a rare developmental disorder that exhibits significant clinical and genetic heterogeneity. Although modeled initially as a purely recessive trait, recent data have unmasked an oligogenic mode of disease transmission, in which mutations at different BBS loci can interact genetically in some families to cause and/or modify the phenotype. Here, I will review and discuss recent advances in elucidating both genetic and cellular aspects of this phenotype and their potential application in understanding the genetic basis of phenotypic variability and oligogenic inheritance.
巴德-比德尔综合征（BBS：OMIM 209900）是一种罕见的发育障碍，具有显著的临床和遗传异质性。尽管最初被建模为一种纯隐性性状，但最近的数据揭示了一种寡基因疾病传播模式，其中不同BBS基因座的突变在某些家族中可发生遗传相互作用，从而导致和/或改变表型。在此，我将回顾和讨论在阐明该表型的遗传和细胞方面的最新进展，以及它们在理解表型变异性和寡基因遗传的遗传基础方面潜在的应用。
