Article
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
Investigative ophthalmology & visual science - 1 Jul 2004
Yamada Koki, Chan Wai-Man, Andrews Caroline, Bosley Thomas M, Sener Emin C, Zwaan Johan T, Mullaney Paul B, Oztürk Banu T, Akarsu A Nurten, Sabol Louise J, Demer Joseph L, Sullivan Timothy J, Gottlob Irene, Roggenkäemper Peter, Mackey David A, De Uzcategui Clara E, Uzcategui Nicolas, Ben-Zeev Bruria, Traboulsi Elias I, Magli Adriano, de Berardinis Teresa, Gagliardi Vincenzo, Awasthi-Patney Sudha, Vogel Marlene C, Rizzo Joseph F, Engle Elizabeth C
Abstract excerpt
PURPOSE: Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine the incidence of...
Topics
- DNA Mutational Analysis
- Female
- Fibrosis
- Genetic Linkage
- Haplotypes
- Homeodomain Proteins
- Humans
- Kinesins