A child with deletion (14)(q24.3q32.13) and auditory neuropathy

Kamilla Schlade-Bartusiak, Georgina Macintyre, Janice Zunich, Diane W. Cox

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)117-123
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number1
DOIs
StatePublished - Jan 1 2008

Keywords

  • Auditory neuropathy
  • Chromosome 14
  • FISH
  • Interstitial deletion
  • Sensorineural hearing loss

ASJC Scopus subject areas

  • Genetics(clinical)

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