There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.
Abstract
<p class="first" id="d268118e117">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.
</p>