Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
| Autor: | Shirli Israeli, Ofer Sarig, Eli Sprecher, Ilan Goldberg, Margarita Indelman, Reuven Bergman, Ben Zion Garty |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Genetic Markers medicine.medical_specialty Serine Proteinase Inhibitors Adolescent Proteinase Inhibitory Proteins Secretory Hair shaft abnormalities Dermatology Severity of Illness Index Dermatitis Atopic Genetic linkage Congenital ichthyosis Humans Medicine Family Israel Child Frameshift Mutation integumentary system business.industry Ichthyosis Infant medicine.disease Pedigree Molecular analysis body regions Netherton Syndrome Child Preschool Jews Protein Biosynthesis Mutation Comel-Netherton syndrome Serine Peptidase Inhibitor Kazal-Type 5 sense organs business Hair |
| Zdroj: | Dermatology. 228:183-188 |
| ISSN: | 1421-9832 1018-8665 |
| DOI: | 10.1159/000357560 |
| Popis: | Background: Comèl-Netherton syndrome is a rare congenital autosomal recessive disorder characterized by congenital ichthyosis, hair shaft abnormalities and atopic diathesis. It is caused by mutations in SPINK5, which encodes the serine protease inhibitor LEKTI. Objectives: To delineate the spectrum of mutations carried by a series of Israeli patients in an attempt to establish an effective diagnostic strategy for this disease in Israel. Methods: Mutations were identified by direct sequencing of the entire coding sequence of SPINK5 and confirmed using polymerase chain reaction-restriction fragment length polymorphism. Results: Three mutations were identified in seven families, of which two were novel. All mutations were predicted to result in premature termination of protein translation. Conclusions: This report presents the first case series of patients affected with Comèl-Netherton syndrome in Israel and suggests that some mutations reoccur in a substantial portion of cases in our country, a fact that should be taken into consideration when designing molecular analysis in new cases. |
| Databáze: | OpenAIRE |
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