Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

Tassano, Elisa; Jagannathan, Vidhya; Drögemüller, Cord; Leoni, Massimiliano; Hytönen, Marjo K; Severino, Mariasavina; Gimelli, Stefania; Cuoco, Cristina; Rocco, Maja Di; Sanio, Kirsi; Groves, Andrew K; Leeb, Tosso; Gimelli, Giorgio (2015). Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion. American journal of medical genetics. Part A, 167(3), pp. 537-544. Wiley-Liss 10.1002/ajmg.a.36895

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We report on the molecular characterization of a microdeletion of approximately 2.5 Mb at 2p11.2 in a female baby with left congenital aural atresia, microtia, and ipsilateral internal carotid artery agenesis. The deletion was characterized by fluorescence in situ hybridization, array comparative genomic hybridization, and whole genome re-sequencing. Among the genes present in the deleted region, we focused our attention on the FOXI3 gene. Foxi3 is a member of the Foxi class of Forkhead transcription factors. In mouse, chicken and zebrafish Foxi3 homologues are expressed in the ectoderm and endoderm giving rise to elements of the jaw as well as external, middle and inner ear. Homozygous Foxi3-/- mice have recently been generated and show a complete absence of the inner, middle, and external ears as well as severe defects in the jaw and palate. Recently, a 7-bp duplication within exon 1 of FOXI3 that produces a frameshift and a premature stop codon was found in hairless dogs. Mild malformations of the outer auditory canal (closed ear canal) and ear lobe have also been noted in a fraction of FOXI3 heterozygote Peruvian hairless dogs. Based on the phenotypes of Foxi3 mutant animals, we propose that FOXI3 may be responsible for the phenotypic features of our patient. Further characterization of the genomic region and the analysis of similar patients may help to demonstrate this point. © 2015 Wiley Periodicals, Inc.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > DermFocus
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Jagannathan, Vidya; Drögemüller, Cord and Leeb, Tosso

Subjects:

500 Science > 570 Life sciences; biology
500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health

ISSN:

1552-4825

Publisher:

Wiley-Liss

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

17 Feb 2015 16:21

Last Modified:

12 Oct 2015 15:20

Publisher DOI:

10.1002/ajmg.a.36895

PubMed ID:

25655429

Uncontrolled Keywords:

FOXI3, agenesis of internal carotid artery, array-CGH, congenital aural atresia, deletion

BORIS DOI:

10.7892/boris.63275

URI:

https://boris.unibe.ch/id/eprint/63275

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