Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study
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DOI：
10.1002/ajmg.a.30406
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发表时间：
2005-02-01
影响因子：
2
通讯作者：
Parfrey, PS
中科院分区：
文献类型：
--
作者：
Moore, SJ;Green, JS;Parfrey, PS
Bardet-Biedl综合征(BBS)和劳伦斯-穆恩综合征(LMS)具有相似的表型，包括视网膜营养不良、肥胖和生殖器发育不良。在LMS中，根据痉挛的存在和多指的缺失来区分它们。这项研究的目的是描述BBS和LMS的流行病学，进一步定义表型，并检查基因型与表型的相关性。这项研究涉及来自26个家庭的46名患者(26名男性，20名女性)，平均年龄为44岁(范围1-68岁)。评估分别在1986年、1993年和2001年进行，包括神经学评估、人体测量和临床照片，以评估畸形特征。家系内和家系间的表型差异很大。86%(18/21)患者出现协调障碍和共济失调。30%(14/46)符合精神疾病标准；其他医学问题包括37%(17/46)的胆囊切除术和28%(13/46)的哮喘。畸形的特征包括短头畸形、大耳朵和短小狭窄的眼睑裂隙。临床或畸形特征与基因分型无明显相关性。两名患者在临床上被诊断为LMS，但都有BBS基因突变。这一人群的特征并不支持BB、S和LMS是不同的概念。缺乏基因型-表型相关性意味着BBS蛋白相互作用，对许多器官的发育是必要的。(C)2005年Wiley-Liss，Inc.
Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to describe the epidemiology of BBS and LMS, further define the phenotype, and examine genotype-phenotype correlation. The study involved 46 patients (26 males, 20 females) from 26 families, with a median age of 44 years (range 1-68 years). Assessments were performed in 1986, 1993, and 2001 and included neurological assessments, anthropometric measurements, and clinical photographs to assess dysmorphic features. The phenotype was highly variable within and between families. Impaired co-ordination and ataxia occurred in 86% (18/21). Thirty percent (14/46) met criteria for psychiatric illness; other medical problems included cholecystectomy in 37% (17/46) and asthma in 28% (13/46). Dysmorphic features included brachycephaly, large ears, and short, narrow palpebral fissures. There was no apparent correlation of clinical or dysmorphic features with genotype. Two patients were diagnosed clinically as LMS but both had mutations in a BBS gene. The features in this population do not support the notion that BB S and LMS are distinct. The lack of a genotype-phenotype correlation implies that BBS proteins interact and are necessary for the development of many organs. (C) 2005 Wiley-Liss, Inc.