Department of Nephrology-Internal Medicine, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania.
Department of Medical Genetics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania.
Genes (Basel). 2021 Aug 29;12(9):1353. doi: 10.3390/genes12091353.
Bardet-Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inheritance. The clinical picture is extremely polymorphic. The main clinical features are retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary abnormalities, and kidney disease. It is caused by various types of mutations, mainly in genes encoding BBSome proteins, chaperonins, and IFT complex. Variable expressivity and pleiotropy are correlated with the existence of multiple genes and variants modifiers. This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in Bardet-Biedl Syndrome, its mechanisms, and importance in early diagnosis and proper management.
Bardet-Biedl 综合征是一种罕见的非运动性原发性纤毛病，多系统受累，呈常染色体隐性遗传。临床表现极其多样。主要临床特征为视网膜锥-杆营养不良、中轴性肥胖、轴后多指（趾）畸形、认知障碍、性腺功能减退和泌尿生殖系统异常以及肾脏疾病。它由多种类型的突变引起，主要是编码 BBSome 蛋白、伴侣蛋白和 IFT 复合物的基因突变。可变表达性和表型多样性与多个基因和变异修饰因子的存在相关。本文重点讨论 Bardet-Biedl 综合征的异质性（基因座、等位基因、突变和临床）现象、其机制以及在早期诊断和恰当管理中的重要性。
