A child with deletion (14)(q24.3q32.13) and auditory neuropathy.
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.
Schlade-Bartusiak
Kamilla
K
Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.
Macintyre
Georgina
G
Zunich
Janice
J
Cox
Diane W
DW
D002147:Calmodulin / Q000235:genetics; D018797:Cell Cycle Proteins / Q000235:genetics; D002675:Child, Preschool; D053379:Chromogranin A / Q000235:genetics; D019457:Chromosome Breakage; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D005260:Female; D051858:Forkhead Transcription Factors; D017353:Gene Deletion; D051956:Goosecoid Protein / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D034041:Monomeric Clathrin Assembly Proteins / Q000235:genetics; D005810:Multigene Family; D012097:Repressor Proteins / Q000235:genetics
C506150:CHGA protein, human; D002147:Calmodulin; D018797:Cell Cycle Proteins; D053379:Chromogranin A; C106158:FOXN3 protein, human; D051858:Forkhead Transcription Factors; C497992:GSC protein, human; D051956:Goosecoid Protein; D034041:Monomeric Clathrin Assembly Proteins; C439003:PICALM protein, human; D012097:Repressor Proteins