Abstract Details

Title Xq26.3 Microdeletion in a Male with Wildervanck Syndrome

Topic Neuro-ophthalmology/Neuro-otology

Presentation(s) P02 - (-)

Poster/Presentation
Number 255

Objective

Background BACKGROUND: Wildervanck Syndrome (cervico-oculo-acoustic syndrome) consists of the Klippel-Feil anomaly, Duane retraction syndrome, and congenital deafness. It is much more common in females than males and could be due to an X-linked mutation that is lethal to hemizygous males.

Design/Methods DESIGN/METHODS: Clinical evaluation; sequencing of candidate genes; and array comparative genomic hybridization.

Results RESULTS: The patient had fusion of almost the entire cervical spine, bilateral type 1 DRS, and bilateral severe sensorineural hearing loss due to bilateral cochlear dysplasia. He also had congenital heart disease requiring surgery. His parents were unrelated, and he had eight unaffected siblings. The patient had no mutation found by Sanger sequencing of HOXA1, KIF21A, SALL4, and CHN1. He had a 3kB deletion in the X-chromosome at Xq26.3 that was not found in his mother, one unaffected sibling, or 56 healthy controls of matching ethnicity. This deletion encompassed only one gene, Fibroblast Growth Factor Homologous Factor 2 (FGF13), which encodes a 216-amino acid protein that acts intracellularly in neurons throughout brain development.

Conclusions CONCLUSIONS: Analysis of this patient's phenotype and genotype open the possibility that X-chromosome deletions may be a cause of WS with larger deletions being lethal to males and that FGF13 mutations may be a cause of WS.

Authors/Disclosures
Thomas M. Bosley, MD, F�鶹��ýӳ�� (The Wilmer Eye Institute, Johns Hopkins University) PRESENTER	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file

�鶹��ýӳ��

�鶹��ýӳ��