A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance

Idiopathic facial palsy (IFP), also known as Bell's palsy, is a common neurologic disorder, but recurrent and familial forms are rare. This case series presents a three-generation family with idiopathic facial palsy. The mode of inheritance of IFP has previously been suggested as autosomal domi...

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Autores principales: Grønhøj Larsen, Christian, Gyldenløve, Mette, Jønch, Aia Elise, Charabi, Birgitte, Tümer, Zeynep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312648/
https://www.ncbi.nlm.nih.gov/pubmed/25685580
http://dx.doi.org/10.1155/2015/683938
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author Grønhøj Larsen, Christian
Gyldenløve, Mette
Jønch, Aia Elise
Charabi, Birgitte
Tümer, Zeynep
author_facet Grønhøj Larsen, Christian
Gyldenløve, Mette
Jønch, Aia Elise
Charabi, Birgitte
Tümer, Zeynep
author_sort Grønhøj Larsen, Christian
collection PubMed
description Idiopathic facial palsy (IFP), also known as Bell's palsy, is a common neurologic disorder, but recurrent and familial forms are rare. This case series presents a three-generation family with idiopathic facial palsy. The mode of inheritance of IFP has previously been suggested as autosomal dominant with low or variable penetrance, but the present family indicates an autosomal dominant trait with high or complete penetrance. Chromosome microarray studies did not reveal a pathogenic copy number variation, which could enable identification of a candidate gene.
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spelling pubmed-43126482015-02-15 A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance Grønhøj Larsen, Christian Gyldenløve, Mette Jønch, Aia Elise Charabi, Birgitte Tümer, Zeynep Case Rep Otolaryngol Case Report Idiopathic facial palsy (IFP), also known as Bell's palsy, is a common neurologic disorder, but recurrent and familial forms are rare. This case series presents a three-generation family with idiopathic facial palsy. The mode of inheritance of IFP has previously been suggested as autosomal dominant with low or variable penetrance, but the present family indicates an autosomal dominant trait with high or complete penetrance. Chromosome microarray studies did not reveal a pathogenic copy number variation, which could enable identification of a candidate gene. Hindawi Publishing Corporation 2015 2015-01-18 /pmc/articles/PMC4312648/ /pubmed/25685580 http://dx.doi.org/10.1155/2015/683938 Text en Copyright © 2015 Christian Grønhøj Larsen et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Grønhøj Larsen, Christian
Gyldenløve, Mette
Jønch, Aia Elise
Charabi, Birgitte
Tümer, Zeynep
A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance
title A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance
title_full A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance
title_fullStr A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance
title_full_unstemmed A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance
title_short A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance
title_sort three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312648/
https://www.ncbi.nlm.nih.gov/pubmed/25685580
http://dx.doi.org/10.1155/2015/683938
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