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Hearing loss in Waardenburg syndrome: a systematic review

J Song, Y Feng, Frederic Acke (UGent) , Paul Coucke (UGent) , Kris Vleminckx (UGent) and Ingeborg Dhooge (UGent)
(2016) CLINICAL GENETICS. 89(4). p.416-425
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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.
Keywords
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

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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.
@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},
}

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