Bonaventure J, Philippe C, Plessis G, Vigneron J, Lasselin C, Maroteaux P, Gilgenkrantz S
CNRS URA 584 Clinique M. Lamy, Hôpital Necker, Paris, France.
Hum Genet. 1992 Sep-Oct;90(1-2):164-8. doi: 10.1007/BF00210766.
A three generation family with Stickler syndrome is reported. Affected patients exhibited myopia with frequent retinal detachment or glaucoma. Most of them had characteristic facial dysmorphism, the Pierre-Robin sequence being observed in four individuals. Neonatal radiological signs of the Weissenbacher-Zweymüller syndrome were also noticed but early arthopathy was not reported in adults. Restriction fragment length polymorphism studies with the type II collagen gene (COL2A1) showed a recombination event between the disease locus and COL2A1, thus excluding collagen type II as the candidate gene. Although the calculation of the likelihood of genetic heterogeneity versus homogeneity based on 10 families was not statistically significant, we suggest that a second locus is probably involved in this highly variable syndrome.
本文报道了一个患有斯蒂克勒综合征的三代家族。受影响的患者表现为近视，并频繁发生视网膜脱离或青光眼。他们中的大多数人有典型的面部畸形，有4人出现了皮埃尔 - 罗宾序列征。还发现了魏森巴赫 - 茨韦米勒综合征的新生儿放射学体征，但未报告成人的早期关节病。对II型胶原基因（COL2A1）进行的限制性片段长度多态性研究显示，疾病位点与COL2A1之间发生了重组事件，因此排除了II型胶原作为候选基因。尽管基于10个家族计算的遗传异质性与同质性的可能性在统计学上无显著差异，但我们认为第二个位点可能与这种高度可变的综合征有关。
