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Your search keyword '"Rizzo, Joseph F."' showing total 10 results
Start Over Author "Rizzo, Joseph F." Publisher association for research in vision and ophthalmology (arvo)
10 results on '"Rizzo, Joseph F."'

6. Identification ofKIF21AMutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

Author

Yamada, Koki, primary, Chan, Wai-Man, additional, Andrews, Caroline, additional, Bosley, Thomas M., additional, Sener, Emin C., additional, Zwaan, Johan T., additional, Mullaney, Paul B., additional, O¨ztu¨rk, Banu T., additional, Akarsu, A. Nurten, additional, Sabol, Louise J., additional, Demer, Joseph L., additional, Sullivan, Timothy J., additional, Gottlob, Irene, additional, Roggenka¨emper, Peter, additional, Mackey, David A., additional, de Uzcategui, Clara E., additional, Uzcategui, Nicolas, additional, Ben-Zeev, Bruria, additional, Traboulsi, Elias I., additional, Magli, Adriano, additional, de Berardinis, Teresa, additional, Gagliardi, Vincenzo, additional, Awasthi-Patney, Sudha, additional, Vogel, Marlene C., additional, Rizzo, Joseph F., additional, and Engle, Elizabeth C., additional

Published
2004
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10. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

Author

Yamada K, Chan WM, Andrews C, Bosley TM, Sener EC, Zwaan JT, Mullaney PB, Oztürk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, Roggenkäemper P, Mackey DA, De Uzcategui CE, Uzcategui N, Ben-Zeev B, Traboulsi EI, Magli A, de Berardinis T, Gagliardi V, Awasthi-Patney S, Vogel MC, Rizzo JF 3rd, and Engle EC

Subjects
DNA Mutational Analysis, Female, Fibrosis, Genetic Linkage, Haplotypes, Homeodomain Proteins genetics, Humans, Male, Ophthalmoplegia pathology, Pedigree, Phenotype, Polymerase Chain Reaction, Transcription Factors genetics, Kinesins genetics, Mutation, Nerve Tissue Proteins genetics, Oculomotor Muscles pathology, Ophthalmoplegia congenital
Abstract

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 KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3., Methods: All pedigrees and sporadic individuals with CFEOM3 in the authors' database were identified, whether the pedigrees were linked or consistent with linkage to the FEOM1, FEOM2, and/or FEOM3 loci was determined, and the appropriate pedigrees and the sporadic individuals were screened for mutations in KIF21A and PHOX2A., Results: Twelve CFEOM3 pedigrees and 10 CFEOM3 sporadic individuals were identified in the database. The structures of eight of the pedigrees permitted the generation of meaningful linkage data. KIF21A was screened in 17 probands, and mutations were identified in two CFEOM3 pedigrees. One pedigree harbored a novel mutation (2841G-->A, M947I) and one harbored the most common and recurrent of the CFEOM1 mutations identified previously (2860C-->T, R954W). None of CFEOM3 pedigrees or sporadic individuals harbored mutations in PHOX2A., Conclusions: The results demonstrate that KIF21A mutations are a rare cause of CFEOM3 and that KIF21A mutations can be nonpenetrant. Although KIF21A is the first gene to be associated with CFEOM3, the results imply that mutations in the unidentified FEOM3 gene are the more common cause of this phenotype.

Published
2004
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