2015
DOI: 10.1111/cge.12631
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Hearing loss in Waardenburg syndrome: a systematic review

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. P… Show more

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Cited by 104 publications
(120 citation statements)
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References 113 publications
(156 reference statements)
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“…Interestingly, one putative LoF variant (c.638C>A; p.S213*) in exon 4d of the NM_000438.5 transcript was found in 0.54% (166/30,592) South Asian alleles including one homozygous individual. This allele frequency is inconsistent with the estimated disease prevalence for autosomal dominant WS of approximately 1/40,000 22,26 . Exon 4d is only 20 amino acids longer than exon 4 on all other transcripts.…”
Section: Resultscontrasting
confidence: 66%
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“…Interestingly, one putative LoF variant (c.638C>A; p.S213*) in exon 4d of the NM_000438.5 transcript was found in 0.54% (166/30,592) South Asian alleles including one homozygous individual. This allele frequency is inconsistent with the estimated disease prevalence for autosomal dominant WS of approximately 1/40,000 22,26 . Exon 4d is only 20 amino acids longer than exon 4 on all other transcripts.…”
Section: Resultscontrasting
confidence: 66%
“…A C3 example is the PAX3 gene which is a common cause of WS, type 1 20-22 . This gene has 8 RefSeq transcripts with varied tissue and temporal expression 23-25 , and with significant alternative splicing; a transcript can include 4, 5, 8, 9, or 10 exons.…”
Section: Resultsmentioning
confidence: 99%
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“…Therefore, the distinction between probands with and without syndromic features has a major influence on differential diagnoses. For example, hearing loss can be a part of syndromic manifestations and is a cardinal feature of several syndromes such as the Waardenberg syndrome [Song et al, ]. At the same time, hearing loss can be the only manifestation if the individual has hearing loss due to GJB2 or GJB6 mutations [Alford et al, ].…”
Section: Introductionmentioning
confidence: 99%
“…Houve também a descrição de uma variante provavelmente patogênica no gene KITLG, até então não associado à SW, em uma família com SW tipo 2 (Zazo Seco et al, 2015). Variantes patogênicas em heterozigose no gene SOX10 transmitidas com padrão autossômico dominante de herança são responsáveis por até 50% dos casos de SW tipo 4 (Pingault et al, 2010), porém herança autossômica recessiva também é descrita decorrente de alterações em homozigose ou heterozigose composta nos genes EDNRB e EDN3 (Song et al, 2016).…”
Section: Genética Da Surdezunclassified