Scopus
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)
Investigative Ophthalmology and Visual Science · Temmuz 2004
Makale Bilgileri
DergiInvestigative Ophthalmology and Visual Science
Yayın TarihiTemmuz 2004
Cilt / Sayfa45 · 2218-2223
Scopus ID2-s2.0-3142654134
Özet
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.
Yazarlar (26)
1
Koki Yamada
2
Wai Man Chan
3
Caroline Andrews
4
Thomas M. Bosley
5
Emin Cumhur Sener
6
Johan T. Zwaan
7
Paul B. Mullaney
8
Banu Turgut Ozturk
ORCID: 0000-0003-0702-6951
9
A. Nurten Akarsu
10
Louise J. Sabol
11
Joseph L. Demer
12
Timothy J. Sullivan
13
Irene Gottlob
14
Peter Roggenkäemper
15
David A. Mackey
16
Clara E. De Uzcategui
17
Nicolas Uzcategui
18
Bruria Ben-Zeev
19
Elias I. Traboulsi
20
Adriano Magli
21
Teresa De Berardinis
22
Vincenzo Gagliardi
23
Sudha Awasthi-Patney
24
Marlene C. Vogel
25
Joseph F. Rizzo
26
Elizabeth C. Engle
Kurumlar
Ankara Güven Hastanesi
Ankara Turkey
Boston Children's Hospital
Boston United States
Cleveland Clinic Foundation
Cleveland United States
Geisinger Medical Center
Danville United States
Hacettepe Üniversitesi
Ankara Turkey
Harvard Medical School
Boston United States
Hospital de Niños Roberto del Río
Santiago Chile
Instituto de Oftalmologia y Otorrinolaringologia
Caracas Venezuela
JKA Institute of Strabismology
Rajkot India
King Khaled Eye Specialist Hospital
Riyadh Saudi Arabia
Massachusetts Eye and Ear
Boston United States
Sligo Regional Hospital
Sligo Ireland
Tel Aviv University
Tel Aviv-Yafo Israel
The University of Queensland
Brisbane Australia
The University of Texas Health Science Center at San Antonio
San Antonio United States
Università degli Studi di Napoli Federico II
Naples Italy
Universitätsklinikum Bonn
Bonn Germany
University of California, Los Angeles
Los Angeles United States
University of Leicester
Leicester United Kingdom
University of Melbourne
Melbourne Australia
University of Southern California
Los Angeles United States
Metrikler
89
Atıf
26
Yazar