PMID: 15223798Jun 30, 2004Paper

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

Investigative Ophthalmology & Visual Science
Koki YamadaElizabeth C Engle

Abstract

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. 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. 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,...Continue Reading

Citations

Dec 21, 2005·Japanese Journal of Ophthalmology·Satoko ShimizuToshio Maruo
Jun 16, 2012·The Cerebellum·Roberto Di FabioCarlo Casali
Jul 13, 2013·Current Opinion in Ophthalmology·Richard C Allen
Jul 23, 2013·Current Opinion in Ophthalmology·Thomas M BosleyDarren T Oystreck
Dec 1, 2011·Topics in Magnetic Resonance Imaging : TMRI·Rafael Martins FerreiraKatia Lin
Feb 15, 2011·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Darren T OystreckThomas M Bosley
Feb 24, 2006·Pediatric Research·Elizabeth C Engle
Feb 25, 2014·Brain : a Journal of Neurology·Janet C RuckerEthylin Wang Jabs
Sep 1, 2014·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Arif O KhanFowzan S Alkuraya
Jan 25, 2008·Seminars in Ophthalmology·Gena HeidaryDavid G Hunter
Dec 2, 2005·Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases·C Oliver Hanemann, Albert C Ludolph
Feb 6, 2016·Ophthalmic Genetics·Thomas M BosleyKhaled K Abu-Amero
Dec 14, 2011·Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie·Darren T OystreckThomas M Bosley
Jan 31, 2014·Seminars in Ophthalmology·Khaled K Abu-AmeroArif O Khan
Feb 5, 2011·Current Opinion in Genetics & Development·Max A TischfieldElizabeth C Engle
Oct 28, 2014·Ophthalmic Genetics·Emin Cumhur SenerAli Sefik Sanaç
Apr 1, 2011·Ophthalmic Genetics·Arif O KhanNada A Al-Tassan
May 29, 2014·Ophthalmic Genetics·Khaled K Abu-AmeroThomas M Bosley
Jul 21, 2006·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Antonio Richieri-Costa, Lucilene Arilho Ribeiro
May 30, 2006·Biochimica Et Biophysica Acta·Erica Chevalier-Larsen, Erika L F Holzbaur
Oct 30, 2016·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Khaled K Abu-AmeroThomas M Bosley
Dec 30, 2016·Developmental Neurobiology·John K Chilton, Sarah Guthrie
Aug 6, 2017·Human Mutation·Regina Proskorovski-OhayonOhad S Birk
Jun 7, 2007·American Journal of Medical Genetics. Part a·Kunihiro YoshidaShu-ichi Ikeda
Jun 11, 2010·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Alexander E VolkAntje Neugebauer
Aug 31, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Fulya Yaylacioglu TuncaySengul Ozdek
Mar 26, 2008·Ophthalmic Genetics·Arif O KhanNada A Al-Tassan
Dec 1, 2020·Ophthalmic Genetics·Christiane Al-HaddadElizabeth Engle
Mar 7, 2020·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Luca SolianiCarlo Fusco
Oct 27, 2021·Breast Cancer Research and Treatment·Anton J LucanusGeorge W Yip

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