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Hearing loss in Waardenburg syndrome: a systematic review

J Song, Y Feng, Frederic Acke, Paul Coucke UGent, Kris Vleminckx UGent and Ingeborg Dhooge UGent (2016) CLINICAL GENETICS. 89(4). p.416-425
abstract
Waardenburg syndrome (WS) is a rare genetic disorder characterized by hearing loss (HL) and pigment disturbances of hair, skin and iris. Classifications exist based on phenotype and genotype. The auditory phenotype is inconsistently reported among the different Waardenburg types and causal genes, urging the need for an up-to-date literature overview on this particular topic. We performed a systematic review in search for articles describing auditory features in WS patients along with the associated genotype. Prevalences of HL were calculated and correlated with the different types and genes of WS. Seventy-three articles were included, describing 417 individual patients. HL was found in 71.0% and was predominantly bilateral and sensorineural. Prevalence of HL among the different clinical types significantly differed (WS1: 52.3%, WS2: 91.6%, WS3: 57.1%, WS4: 83.5%). Mutations in SOX10 (96.5%), MITF (89.6%) and SNAI2 (100%) are more frequently associated with hearing impairment than other mutations. Of interest, the distinct disease-causing genes are able to better predict the auditory phenotype compared with different clinical types of WS. Consequently, it is important to confirm the clinical diagnosis of WS with molecular analysis in order to optimally inform patients about the risk of HL.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (review)
publication status
published
subject
keyword
hearing loss, phenotype, inner ear malformation, genotype, Waardenburg syndrome, SYNDROME TYPE-I, B-RECEPTOR GENE, TEMPORAL BONE ABNORMALITIES, NOVO SOX10 MUTATION, SYNDROME TYPE-1 WS1, HUP2 PAIRED DOMAIN, PAX3 GENE, HIRSCHSPRUNG-DISEASE, MITF GENE, TRUNCATING MUTATIONS
journal title
CLINICAL GENETICS
Clin. Genet.
volume
89
issue
4
pages
416 - 425
Web of Science type
Review
Web of Science id
000372289600002
JCR category
GENETICS & HEREDITY
JCR impact factor
3.326 (2016)
JCR rank
62/166 (2016)
JCR quartile
2 (2016)
ISSN
0009-9163
DOI
10.1111/cge.12631
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
7236430
handle
http://hdl.handle.net/1854/LU-7236430
date created
2016-05-27 16:35:54
date last changed
2016-12-19 15:47:15
@article{7236430,
  abstract     = {Waardenburg syndrome (WS) is a rare genetic disorder characterized by hearing loss (HL) and pigment disturbances of hair, skin and iris. Classifications exist based on phenotype and genotype. The auditory phenotype is inconsistently reported among the different Waardenburg types and causal genes, urging the need for an up-to-date literature overview on this particular topic. We performed a systematic review in search for articles describing auditory features in WS patients along with the associated genotype. Prevalences of HL were calculated and correlated with the different types and genes of WS. Seventy-three articles were included, describing 417 individual patients. HL was found in 71.0\% and was predominantly bilateral and sensorineural. Prevalence of HL among the different clinical types significantly differed (WS1: 52.3\%, WS2: 91.6\%, WS3: 57.1\%, WS4: 83.5\%). Mutations in SOX10 (96.5\%), MITF (89.6\%) and SNAI2 (100\%) are more frequently associated with hearing impairment than other mutations. Of interest, the distinct disease-causing genes are able to better predict the auditory phenotype compared with different clinical types of WS. Consequently, it is important to confirm the clinical diagnosis of WS with molecular analysis in order to optimally inform patients about the risk of HL.},
  author       = {Song, J and Feng, Y and Acke, Frederic and Coucke, Paul and Vleminckx, Kris and Dhooge, Ingeborg},
  issn         = {0009-9163},
  journal      = {CLINICAL GENETICS},
  keyword      = {hearing loss,phenotype,inner ear malformation,genotype,Waardenburg syndrome,SYNDROME TYPE-I,B-RECEPTOR GENE,TEMPORAL BONE ABNORMALITIES,NOVO SOX10 MUTATION,SYNDROME TYPE-1 WS1,HUP2 PAIRED DOMAIN,PAX3 GENE,HIRSCHSPRUNG-DISEASE,MITF GENE,TRUNCATING MUTATIONS},
  language     = {eng},
  number       = {4},
  pages        = {416--425},
  title        = {Hearing loss in Waardenburg syndrome: a systematic review},
  url          = {http://dx.doi.org/10.1111/cge.12631},
  volume       = {89},
  year         = {2016},
}

Chicago
Song, J, Y Feng, Frederic Acke, Paul Coucke, Kris Vleminckx, and Ingeborg Dhooge. 2016. “Hearing Loss in Waardenburg Syndrome: a Systematic Review.” Clinical Genetics 89 (4): 416–425.
APA
Song, J, Feng, Y., Acke, F., Coucke, P., Vleminckx, K., & Dhooge, I. (2016). Hearing loss in Waardenburg syndrome: a systematic review. CLINICAL GENETICS, 89(4), 416–425.
Vancouver
1.
Song J, Feng Y, Acke F, Coucke P, Vleminckx K, Dhooge I. Hearing loss in Waardenburg syndrome: a systematic review. CLINICAL GENETICS. 2016;89(4):416–25.
MLA
Song, J, Y Feng, Frederic Acke, et al. “Hearing Loss in Waardenburg Syndrome: a Systematic Review.” CLINICAL GENETICS 89.4 (2016): 416–425. Print.