Occurrence of Deletion of a COL2A1 Allele As the Mutation in Stickler Syndrome Shows That a Collagen Type II Dosage Effect Underlies This Syndrome

被引：15

作者：

van der Hout, Annemarie H. ^{[1
]}

Verlind, Edwin ^{[1
]}

Beemer, Frits A. ^{[2
]}

Buys, Charles H. C. M. ^{[1
]}

Hofstra, Robert M. W. ^{[1
]}

Scheffer, Hans ^{[1
]}

机构：

[1] Univ Groningen Hosp, Dept Clin Genet, NL-9713 AW Groningen, Netherlands

[2] Univ Med Ctr, Dept Med Genet, Utrecht, Netherlands

来源：

HUMAN MUTATION | 2002年 / 20卷 / 03期

关键词：

Stickler syndrome; COL2A1; deletion; dosage effect;

D O I：

10.1002/humu.9061

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a novel type of mutation in the COL2A1 gene in a family with Stickler syndrome, namely a deletion of an entire COL2A1 allele. Until now, almost all COL2A1 mutations found in this syndrome are nucleotide substitutions, small deletions, or insertions, resulting in premature translation termination. Since the phenotype in this family is not different from cases with a truncated alpha-chain, our finding supports the suggestion that a dosage effect is underlying Stickler syndrome. Moreover, in mutation screening protocols for COL2A1 one should be aware of the possibility of large deletions, which are not detected by generally used PCR-based methods. (C) 2002 Wiley-Liss, Inc.

引用

页数：4