Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the α2(XI) chain of type XI collagen

被引：96

作者：

Sirko-Osadsa, D

Murray, MA

Scott, JA

Lavery, MA

Warman, ML

Robin, NH

机构：

[1] Case Western Reserve Univ, Sch Med, Dept Genet, Cleveland, OH 44106 USA

[2] Univ Hosp Cleveland, Inst Human Genet, Cleveland, OH 44106 USA

来源：

JOURNAL OF PEDIATRICS | 1998年 / 132卷 / 02期

关键词：

D O I：

10.1016/S0022-3476(98)70466-4

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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, with encodes the alpha(2)(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.

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页码：368 / 371

页数：4

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