无眼部受累的斯-利二氏综合征由编码XI型胶原α2(XI)链的基因COL11A2突变引起。
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
作者信息
Sirko-Osadsa D A, Murray M A, Scott J A, Lavery M A, Warman M L, Robin N H
机构信息
Department of Genetics, Case Western Reserve University School of Medicine and the Center for Human Genetics, University Hospitals of Cleveland, USA.
出版信息
J Pediatr. 1998 Feb;132(2):368-71. doi: 10.1016/s0022-3476(98)70466-4.
Eye involvement has been considered a principal component feature in Stickler syndrome. However, families lacking eye involvement have been reported. We describe such a family and show that their phenotype is due to a heterozygous 27 basepair deletion in the gene COL11A2, which encodes the alpha2(XI) chain of type XI collagen. This is the second family in whom a COL11A2 mutation has been found to cause Stickler syndrome without eye involvement. This result confirms the role of COL11A2 in the etiopathogenesis of this disorder.
眼部受累一直被认为是斯蒂克勒综合征的主要组成特征。然而，已有报道称存在缺乏眼部受累的家族。我们描述了这样一个家族，并表明他们的表型是由于COL11A2基因中一个27个碱基对的杂合缺失所致，该基因编码XI型胶原的α2(XI)链。这是第二个被发现COL11A2突变导致无眼部受累的斯蒂克勒综合征的家族。这一结果证实了COL11A2在该疾病发病机制中的作用。
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