| HOXA1 mutations are not a common cause of Möbius syndrome. | |
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MedLine Citation:
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PMID: 20227628 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The HOXA1-related syndromes result from autosomal-recessive truncating mutations in the homeobox transcription factor, HOXA1. Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery, and/or conotruncal heart defects. Möbius syndrome is also phenotypically heterogeneous, with minimal diagnostic criteria of nonprogressive facial weakness and impaired ocular abduction; mental retardation, autism, motor disabilities, additional eye movements restrictions, hearing loss, hypoventilation, and craniofacial, lingual, and limb abnormalities also occur. We asked, given the phenotypic overlap between these syndromes and the variable expressivity of both disorders, whether individuals with Möbius syndrome might harbor mutations in HOXA1. Our results suggest that HOXA1 mutations are not a common cause of sporadic Möbius syndrome in the general population. |
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Authors:
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Jessica K Rankin; Caroline Andrews; Wai-Man Chan; Elizabeth C Engle |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus Volume: 14 ISSN: 1528-3933 ISO Abbreviation: J AAPOS Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-03-15 Completed Date: 2010-06-11 Revised Date: 2010-12-03 |
Medline Journal Info:
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Nlm Unique ID: 9710011 Medline TA: J AAPOS Country: United States |
Other Details:
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Languages: eng Pagination: 78-80 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2010 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved. |
Affiliation:
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Department of Neurology, Children's Hospital Boston, Boston, Massachusetts, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Duane Retraction Syndrome / genetics* Exons / genetics Genetic Predisposition to Disease Homeodomain Proteins / genetics* Humans Introns / genetics Mobius Syndrome / genetics* Phenotype Polymorphism, Single Nucleotide* Transcription Factors / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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HD18655/HD/NICHD NIH HHS; NEI R01EY15298/EY/NEI NIH HHS; P30 HD018655-28/HD/NICHD NIH HHS; R01 EY015298-05/EY/NEI NIH HHS; //Howard Hughes Medical Institute |
| Chemical | |
Reg. No./Substance:
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0/Homeodomain Proteins; 0/Transcription Factors; 0/homeobox A1 protein |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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