How to cite this article: Schlade-Bartusiak K, Macintyre G, Zunich J, Cox DW. 2007. A child with deletion (14)(q24.3q32.13) and auditory neuropathy. Am J Med Genet Part A 146A:117–123.
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Clinical Report
Article first published online: 11 DEC 2007
DOI: 10.1002/ajmg.a.32064
Copyright © 2007 Wiley-Liss, Inc.
Issue
American Journal of Medical Genetics Part A
Volume 146A, Issue 1, pages 117–123, 1 January 2008
Additional Information
How to Cite
Schlade-Bartusiak, K., Macintyre, G., Zunich, J. and Cox, D. W. (2008), A child with deletion (14)(q24.3q32.13) and auditory neuropathy. Am. J. Med. Genet., 146A: 117–123. doi: 10.1002/ajmg.a.32064
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Competing interest: none declared.
Publication History
- Issue published online: 19 DEC 2007
- Article first published online: 11 DEC 2007
- Manuscript Accepted: 21 JUL 2007
- Manuscript Received: 18 JUN 2007
- Abstract
- Article
- References
- Cited By
Keywords:
- chromosome 14;
- interstitial deletion;
- sensorineural hearing loss;
- auditory neuropathy;
- FISH
Abstract
An interstitial deletion in the middle and distal part of chromosome 14 is a rare chromosomal abnormality characterized by a wide spectrum of phenotypic manifestations. We present a patient with a nearly 20 Mb interstitial deletion of chromosome 14q24.3q32.13 determined by FISH, that is associated with minor dysmorphic features, developmental delay, absent speech and auditory neuropathy. The deleted region contains 130 known genes, among them 48 with reported function or association with human disease. The patient's phenotype is compared with interstitial deletions of the distal part of chromosome 14 reported previously. We hypothesize, that there is (are) a gene (genes) in the 14q32.11–q32.13 that is (are) important for the hearing process and for which haploinsufficiency can cause auditory neuropathy. Several genes in the region, among them calmodulin, chromogranin A, the goosecoid and FOXN3, can contribute to the observed phenotype. Detailed mapping in additional patients with 14q32 deletions and hearing loss could further define the candidate region. © 2007 Wiley-Liss, Inc.