Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome 12p13
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- 作者：Nazneen Rahman ; Melanie Dunstan ; M. Dawn Teare ; S ; ra Hanks ; Jenny Douglas ; Kim Coleman ; William E. Bottomly ; Mary E. Campbell ; Britta Berglund ; Magnus Nordenskjö ; ld ; Bengt Forssell ; Nigel Burrows ; Peter Lunt ; Ian Young ; Nigel Williams ; Graham R. Bignell ; P. Andrew Futreal ; F. Michael Pope
- 刊名：The American Journal of Human Genetics
- 出版年：2003
- 出版时间：July 2003
- 年：2003
- 卷：73
- 期：1
- 页码：198-204
- 全文大小：1401 K
文摘
Ehlers-Danlos VIII (EDS-VIII) is an autosomal dominant disorder characterized by severe early-onset periodontal disease in conjunction with the features of Ehlers-Danlos syndrome (EDS). We performed a genomewide linkage search in a large Swedish pedigree with EDS-VIII and established linkage to a 7-cM interval on chromosome 12p13, generating a maximum multipoint LOD score of 5.17. Analysis of four further pedigrees with EDS-VIII revealed two consistent with linkage to 12p13 and two in which linkage could be excluded, indicating that EDS-VIII is a genetically heterogeneous disorder. Chromosome 12p13 has not previously been implicated in either EDS or periodontal disease and contains no known collagen genes or collagen-processing enzymes. Mutational screening of the microfibril-associated glycoprotein-2 gene, a strong candidate within the minimal interval, did not reveal any likely pathogenic mutations.