Lisi V, Guala A, Lopez A, Vitali M, Spadoni E, Olivieri C, Danesino C, Mottes M
Dipartimento Materno Infantile e di Biologia e Genetica, Università di Verona, Italy.
Genet Couns. 2002;13(2):163-70.
The Stickler syndrome is among the most common heritable disorders of connective tissue. The syndrome fully expressed clinical phenotype includes the degeneration of the vitreous gel and retina, frequently associated with myopia, accompanied by non-ocular features, such as craniofacial dysmorphisms or malformations, hearing impairment, skeletal dysplasia and progressive arthropathy. So far, mutations at three collagen loci, COL2A1, COL11A1 and COL11A2, have been found in Stickler syndrome patients, with about two thirds of investigated familial cases found to be associated to COL2A1 gene mutations. We report on a three generation family in which a diagnosis of Stickler syndrome was made and linkage analysis suggested COL2A1 to be the causing gene. These data permitted us to perform two prenatal diagnosis analysing the 3'VNTR polymorphism of the involved gene on amniocytes' DNA and to provide the family with genetic counselling and paediatric support at the delivery.
斯蒂克勒综合征是最常见的遗传性结缔组织疾病之一。该综合征完全表达的临床表型包括玻璃体凝胶和视网膜变性，常伴有近视，并伴有非眼部特征，如颅面部畸形或发育异常、听力障碍、骨骼发育不良和进行性关节病。迄今为止，在斯蒂克勒综合征患者中发现了三个胶原基因座COL2A1、COL11A1和COL11A2的突变，约三分之二经调查的家族病例被发现与COL2A1基因突变有关。我们报告了一个三代家族，其中诊断出斯蒂克勒综合征，连锁分析表明COL2A1是致病基因。这些数据使我们能够进行两次产前诊断，分析羊膜细胞DNA上相关基因的3'VNTR多态性，并在分娩时为该家族提供遗传咨询和儿科支持。
