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A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome

PURPOSE: To describe the phenotypic characteristics and clinical course of a sporadic case of congenital fibrosis of the extraocular muscles (CFEOM) and Möbius syndrome with a de novo mutation in the KIF21A gene encoding a kinesin motor protein. METHODS: An individual with the rare combination of CF...

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Autores principales: Ali, Zahra, Xing, Chao, Anwar, Didar, Itani, Kamel, Weakley, David, Gong, Xin, Pascual, Juan M., Mootha, V. Vinod
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976685/
https://www.ncbi.nlm.nih.gov/pubmed/24715754
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author Ali, Zahra
Xing, Chao
Anwar, Didar
Itani, Kamel
Weakley, David
Gong, Xin
Pascual, Juan M.
Mootha, V. Vinod
author_facet Ali, Zahra
Xing, Chao
Anwar, Didar
Itani, Kamel
Weakley, David
Gong, Xin
Pascual, Juan M.
Mootha, V. Vinod
author_sort Ali, Zahra
collection PubMed
description PURPOSE: To describe the phenotypic characteristics and clinical course of a sporadic case of congenital fibrosis of the extraocular muscles (CFEOM) and Möbius syndrome with a de novo mutation in the KIF21A gene encoding a kinesin motor protein. METHODS: An individual with the rare combination of CFEOM and Möbius syndrome underwent comprehensive ophthalmologic and neurological evaluations. Magnetic resonance imaging (MRI) including diffusion tensor imaging (DTI) tractigraphy at 3T field strength was used to evaluate orbital, encephalic, and intracranial nerve integrity. The proband and her healthy parents underwent screening for mutations in the KIF21A, PHOX2A, and TUBB3 genes. RESULTS: The patient exhibited congenital, nonprogressive, bilateral external ophthalmoplegia, bilateral ptosis, bilateral facial palsy, and developmental delay. Her inability to blink resulted in severe exposure keratopathy and subsequent corneal perforation requiring a penetrating keratoplasty. MRI revealed an unremarkable configuration of the axial central nervous system and preservation of the intracranial portion of cranial nerves I, II, III, V, VI, VII, and VIII (cranial nerve IV is not normally visualized by MRI). A novel and de novo heterozygous KIF21A mutation (c.1056C>G, p.Asp352Glu) in a highly conserved region of the gene was present in the proband. CONCLUSIONS: The reported KIF21A D352E mutation and associated phenotype further expand the clinical and mutational spectrum of CFEOM and Möbius syndrome.
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spelling pubmed-39766852014-04-08 A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome Ali, Zahra Xing, Chao Anwar, Didar Itani, Kamel Weakley, David Gong, Xin Pascual, Juan M. Mootha, V. Vinod Mol Vis Research Article PURPOSE: To describe the phenotypic characteristics and clinical course of a sporadic case of congenital fibrosis of the extraocular muscles (CFEOM) and Möbius syndrome with a de novo mutation in the KIF21A gene encoding a kinesin motor protein. METHODS: An individual with the rare combination of CFEOM and Möbius syndrome underwent comprehensive ophthalmologic and neurological evaluations. Magnetic resonance imaging (MRI) including diffusion tensor imaging (DTI) tractigraphy at 3T field strength was used to evaluate orbital, encephalic, and intracranial nerve integrity. The proband and her healthy parents underwent screening for mutations in the KIF21A, PHOX2A, and TUBB3 genes. RESULTS: The patient exhibited congenital, nonprogressive, bilateral external ophthalmoplegia, bilateral ptosis, bilateral facial palsy, and developmental delay. Her inability to blink resulted in severe exposure keratopathy and subsequent corneal perforation requiring a penetrating keratoplasty. MRI revealed an unremarkable configuration of the axial central nervous system and preservation of the intracranial portion of cranial nerves I, II, III, V, VI, VII, and VIII (cranial nerve IV is not normally visualized by MRI). A novel and de novo heterozygous KIF21A mutation (c.1056C>G, p.Asp352Glu) in a highly conserved region of the gene was present in the proband. CONCLUSIONS: The reported KIF21A D352E mutation and associated phenotype further expand the clinical and mutational spectrum of CFEOM and Möbius syndrome. Molecular Vision 2014-03-28 /pmc/articles/PMC3976685/ /pubmed/24715754 Text en Copyright © 2014 Molecular Vision. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.
spellingShingle Research Article
Ali, Zahra
Xing, Chao
Anwar, Didar
Itani, Kamel
Weakley, David
Gong, Xin
Pascual, Juan M.
Mootha, V. Vinod
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome
title A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome
title_full A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome
title_fullStr A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome
title_full_unstemmed A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome
title_short A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome
title_sort novel de novo kif21a mutation in a patient with congenital fibrosis of the extraocular muscles and möbius syndrome
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976685/
https://www.ncbi.nlm.nih.gov/pubmed/24715754
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