Congenital sensorineural deafness in Australian Stumpy-tail Cattle Dogs is an autosomal recessive trait that maps to CFA10

Sommerlad, Susan, McRae, Allan F., McDonald, Brenda, Johnstone, Isobel, Cuttell, Leigh, Seddon, Jennifer M. and O'Leary, Caroline A. (2010) Congenital sensorineural deafness in Australian Stumpy-tail Cattle Dogs is an autosomal recessive trait that maps to CFA10. PLoS One, 5 10: e13364. doi:10.1371/journal.pone.0013364

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Author Sommerlad, Susan
McRae, Allan F.
McDonald, Brenda
Johnstone, Isobel
Cuttell, Leigh
Seddon, Jennifer M.
O'Leary, Caroline A.
Title Congenital sensorineural deafness in Australian Stumpy-tail Cattle Dogs is an autosomal recessive trait that maps to CFA10
Journal name PLoS One   Check publisher's open access policy
ISSN 1932-6203
Publication date 2010-10
Year available 2010
Sub-type Article (original research)
DOI 10.1371/journal.pone.0013364
Open Access Status DOI
Volume 5
Issue 10
Start page e13364
Total pages 9
Place of publication San Francisco, CA, U.S.A.
Publisher Public Library of Science
Collection year 2011
Language eng
Formatted abstract
BACKGROUND:
Congenital sensorineural deafness is an inherited condition found in many dog breeds, including Australian Stumpy-tail Cattle Dogs (ASCD). This deafness is evident in young pups and may affect one ear (unilateral) or both ears (bilateral). The genetic locus/loci involved is unknown for all dog breeds. The aims of this study were to determine incidence, inheritance mechanism, and possible association of congenital sensorineural deafness with coat colour in ASCD and to identify the genetic locus underpinning this disease.

METHODOLOGY/PRINCIPAL FINDINGS:
A total of 315 ASCD were tested for sensorineural deafness using the brain stem auditory evoked response (BAER) test. Disease penetrance was estimated directly, using the ratio of unilaterally to bilaterally deaf dogs, and segregation analysis was performed using Mendel. A complete genome screen was undertaken using 325 microsatellites spread throughout the genome, on a pedigree of 50 BAER tested ASCD in which deafness was segregating. Fifty-six dogs (17.8%) were deaf, with 17 bilaterally and 39 unilaterally deaf. Unilaterally deaf dogs showed no significant left/right bias (p = 0.19) and no significant difference was observed in frequencies between the sexes (p = 0.18). Penetrance of deafness was estimated as 0.72. Testing the association of red/blue coat colour and deafness without accounting for pedigree structure showed that red dogs were 1.8 times more likely to be deaf (p = 0.045). The within family association between red/blue coat colour and deafness was strongly significant (p = 0.00036), with red coat colour segregating more frequently with deafness (COR = 0.48). The relationship between deafness and coat speckling approached significance (p = 0.07), with the lack of statistical significance possibly due to only four families co-segregating for both deafness and speckling. The deafness phenotype was mapped to CFA10 (maximum linkage peak on CFA10 -log10 p-value = 3.64), as was both coat colour and speckling. Fine mapping was then performed on 45 of these 50 dogs and a further 48 dogs (n = 93). Sequencing candidate gene Sox10 in 6 hearing ASCD, 2 unilaterally deaf ASCD and 2 bilaterally deaf ASCD did not reveal any disease-associated mutations.

CONCLUSIONS:
Deafness in ASCD is an incompletely penetrant autosomal recessive inherited disease that maps to CFA10.
Keyword Auditory-evoked Response
Clinically Normal Dog
Inner-ear Morphology
Segregation Analysis
Coat Color
Transcription-factor
Latency Components
Bilateral Deafness
Linkage Analysis
Dalmatian Dogs
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
School of Veterinary Science Publications
 
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Created: Wed, 17 Nov 2010, 10:29:35 EST by AProf Jennifer Seddon on behalf of School of Veterinary Science