Epidermolysis bullosa simplex in Israel - Clinical and genetic features

被引:48
|
作者
Ciubotaru, D
Bergman, R
Baty, D
Indelman, M
Pfendner, E
Petronius, D
Moualem, H
Kanaan, M
Ben Amitai, D
McLean, WHI
Uitto, J
Sprecher, E [1 ]
机构
[1] Rambam Med Ctr, Gunther Kahn Dept Dermatol, Haifa, Israel
[2] Rambam Med Ctr, Lab Mol Dermatol, Haifa, Israel
[3] Ninewells Hosp, Human Genet Unit, Dundee DD1 9SY, Scotland
[4] Thomas Jefferson Univ, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA
[5] Thomas Jefferson Univ, Inst Mol Med, Philadelphia, PA 19107 USA
[6] Rabin Med Ctr, Pediat Dermatol Unit, Petah Tiqwa, Israel
关键词
D O I
10.1001/archderm.139.4.498
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Background: Epidermolysis bullosa simplex (EBS) is the most common form of epidermolysis bullosa. The disease is characterized by intraepidermal blistering due in most cases to mutations in cytokeratin genes 5 (K5) or 14 (K14). Extensive studies in the United States and Europe have shown that EBS is almost always inherited in an autosomal dominant fashion. Objective: To assess the possibility that the molecular features of EBS may differ according to the type of population studied. Design: We assessed 10 Israeli families diagnosed as having EBS and compared their clinical and genetic features with previous observations. Affected individuals underwent complete clinical evaluation. DNA from all family members was assessed for mutations in K5 or K14 using polymerase chain reaction amplification, direct sequencing, and subsequent mutation verification. In addition, specific cases were genotyped using a panel of microsatellite markers spanning the K14 locus. Results: Eight distinct pathogenic mutations in K5 (3 mutations) and K14 (5 mutations) were identified. Six of these mutations are novel. The mutations included 2 nonsense mutations and 6 missense mutations. A third of the affected families inherited EBS in a recessive fashion, in contrast with previous observations in Europe and the United States. In addition, we identified a unique case that resulted from compound heterozygosity for a missense and a nonsense mutation in K14. Homozygous nonsense mutations were strongly associated with a severe phenotype. Conclusion: The present study demonstrates a unique mutation spectrum and a strikingly different pattern of inheritance for EBS in a series of Israeli families compared with families of European or US extraction.
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收藏
页码:498 / 505
页数:8
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