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 journalArticle

12 Citations (Scopus)

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

Fingerprint

Chromosomes, Human, Pair 14
Genes
Language Development Disorders
Phenotype
Haploinsufficiency
Chromogranin A
Chromosome Deletion
Calmodulin
Hearing Loss
Chromosome Aberrations
Hearing
Auditory neuropathy

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

A child with deletion (14)(q24.3q32.13) and auditory neuropathy. / Schlade-Bartusiak, Kamilla; Macintyre, Georgina; Zunich, Janice; Cox, Diane W.

In: American Journal of Medical Genetics, Part A, Vol. 146, No. 1, 01.01.2008, p. 117-123.

Research output: Contribution to journalArticle

Schlade-Bartusiak, K, Macintyre, G, Zunich, J & Cox, DW 2008, 'A child with deletion (14)(q24.3q32.13) and auditory neuropathy', American Journal of Medical Genetics, Part A, vol. 146, no. 1, pp. 117-123. https://doi.org/10.1002/ajmg.a.32064
Schlade-Bartusiak, Kamilla ; Macintyre, Georgina ; Zunich, Janice ; Cox, Diane W. / A child with deletion (14)(q24.3q32.13) and auditory neuropathy. In: American Journal of Medical Genetics, Part A. 2008 ; Vol. 146, No. 1. pp. 117-123.
@article{cddcefb2018a4ef4b99fd5c8fcfd1497,
title = "A child with deletion (14)(q24.3q32.13) and auditory neuropathy",
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.",
keywords = "Auditory neuropathy, Chromosome 14, FISH, Interstitial deletion, Sensorineural hearing loss",
author = "Kamilla Schlade-Bartusiak and Georgina Macintyre and Janice Zunich and Cox, {Diane W.}",
year = "2008",
month = "1",
day = "1",
doi = "10.1002/ajmg.a.32064",
language = "English",
volume = "146",
pages = "117--123",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - A child with deletion (14)(q24.3q32.13) and auditory neuropathy

AU - Schlade-Bartusiak, Kamilla

AU - Macintyre, Georgina

AU - Zunich, Janice

AU - Cox, Diane W.

PY - 2008/1/1

Y1 - 2008/1/1

N2 - 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.

AB - 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.

KW - Auditory neuropathy

KW - Chromosome 14

KW - FISH

KW - Interstitial deletion

KW - Sensorineural hearing loss

UR - http://www.scopus.com/inward/record.url?scp=37549059104&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=37549059104&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.32064

DO - 10.1002/ajmg.a.32064

M3 - Article

VL - 146

SP - 117

EP - 123

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4825

IS - 1

ER -