Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene

Henricus G X M Thomeer; Tom T H Crins; Erik J Kamsteeg; Wendy Buijsman; Johannes R M Cruysberg; Nine V A M Knoers; Cor W R J Cremers

Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene

Henricus G X M Thomeer, Tom T H Crins, Erik J Kamsteeg, Wendy Buijsman, Johannes R M Cruysberg, Nine V A M Knoers, Cor W R J Cremers

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.

Original language	English
Pages (from-to)	806-14
Number of pages	9
Journal	Annals of Otology, Rhinology and Laryngology
Volume	119
Issue number	12
Publication status	Published - Dec 2010

Keywords

Adolescent
Branchio-Oto-Renal Syndrome
Child
Ear, External
Female
Hearing Loss, Conductive
Humans
Male
Mutation
Sequence Analysis, DNA
Transcription Factor AP-2
Case Reports
Journal Article
Review

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title = "Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene",

abstract = "We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.",

keywords = "Adolescent, Branchio-Oto-Renal Syndrome, Child, Ear, External, Female, Hearing Loss, Conductive, Humans, Male, Mutation, Sequence Analysis, DNA, Transcription Factor AP-2, Case Reports, Journal Article, Review",

author = "Thomeer, {Henricus G X M} and Crins, {Tom T H} and Kamsteeg, {Erik J} and Wendy Buijsman and Cruysberg, {Johannes R M} and Knoers, {Nine V A M} and Cremers, {Cor W R J}",

year = "2010",

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language = "English",

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pages = "806--14",

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T2 - a new mutation in the TFAP2A gene

AU - Thomeer, Henricus G X M

AU - Crins, Tom T H

AU - Kamsteeg, Erik J

AU - Buijsman, Wendy

AU - Cruysberg, Johannes R M

AU - Knoers, Nine V A M

AU - Cremers, Cor W R J

PY - 2010/12

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N2 - We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.

AB - We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.

KW - Adolescent

KW - Branchio-Oto-Renal Syndrome

KW - Child

KW - Ear, External

KW - Female

KW - Hearing Loss, Conductive

KW - Humans

KW - Male

KW - Mutation

KW - Sequence Analysis, DNA

KW - Transcription Factor AP-2

KW - Case Reports

KW - Journal Article

KW - Review

M3 - Article

C2 - 21250552

SN - 0003-4894

VL - 119

SP - 806

EP - 814

JO - Annals of Otology, Rhinology and Laryngology

JF - Annals of Otology, Rhinology and Laryngology

IS - 12

ER -

Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene

Abstract

Keywords

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