Point mutation in the MITF gene causing Waardenburg syndrome type II in a three‐generation Indian family

Lalwani, Anil K.; Attaie, Ali; Randolph, Frederick T.; Deshmukh, Dilip; Wang, Cynthia; Mhatre, Anand N.; Wilcox, Edward R.

doi:10.1002/(sici)1096-8628(19981204)80:4<406::aid-ajmg20>3.3.co;2-g

Cited by 4 publications

(5 citation statements)

References 5 publications

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“…, a flow diagram of the search process is depicted. Out of the 246 potentially eligible articles based on title and abstract, 73 articles met the inclusion criteria and were included in the analysis . One article fulfilled the inclusion criteria, but was not included in the analysis because the patient suffered from a second genetic disorder that could as well result in HL .…”

Section: Resultsmentioning

confidence: 99%

Hearing loss in Waardenburg syndrome: a systematic review

et al. 2015

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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.

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Section: Resultsmentioning

confidence: 99%

Hearing loss in Waardenburg syndrome: a systematic review

et al. 2015

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“…, 2004 and Arnheiter et al. , 2006), eight mutations are known in humans (Lalwani et al. , 1998; Nobukuni et al.…”

Section: Introductionmentioning

confidence: 99%

“…Numerous mutations are known in the Mitf gene in several vertebrate species. More than 25 mutations are known in the mouse (reviewed in Steingrimsson et al, 2004 andArnheiter et al, 2006), eight mutations are known in humans (Lalwani et al, 1998;Nobukuni et al, 1996;Takeda et al, 2000a), two in the hamster (Graw et al, 2003;Hodgkinson et al, 1998) and one each in rat , quail (Kawaguchi et al, 2001;Mochii et al, 1998), and zebrafish (Lister et al, 1999). Common to nearly all Mitf mutations in the mouse are defects in neural-crest-derived melanocytes, manifested by a lack of pigment in the coat and inner ear.…”

Section: Introductionmentioning

confidence: 99%

Evolutionary sequence comparison of the Mitf gene reveals novel conserved domains

Hallsson

Haflidadóttir

Schepsky

et al. 2007

Pigment Cell Research

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The microphthalmia-associated transcription factor (MITF) is a member of the MYC family of basic helix-loop-helix leucine zipper transcription factors. The corresponding gene was initially discovered in the mouse based on mutations which affect the development of several different cell types, including melanocytes and retinal pigment epithelium cells. Subsequently, it was shown to be associated with deafness and hypo-pigmentation disorders in humans. More recently, the gene has been shown to be critical in melanoma formation and to play a role in melanocyte stem cell maintenance. Thus, the mouse Mitf gene represents an important model system for the study of human disease as well as an interesting model for the study of transcription factor function in the organism. Here we use the evolutionary relationship of Mitf genes from numerous distantly related species, including vertebrates and invertebrates, to identify novel conserved domains in the Mitf protein and regions of possible functional importance in the 3' untranslated region. We also characterize the nine different 5' exons of the Mitf gene and identify a new 5' exon in the Drosophila Mitf gene. Our analysis sheds new light on the conservation of the Mitf gene and protein and opens the door for further functional analysis.

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“…The irides tend to display sectorial areas of hypopigmentation (Barashkov et al, 2019; Choi et al, 2004), and the ocular fundus may also show pigmentary defects suggesting mosaicism (Figure 1; Choi et al, 2004; Jalilian et al, 2017; Müllner‐Eidenböck, Moser, Frisch, & Read, 2001). In WS2, the degree of auditory and oculocutaneous defects is highly variable within affected families (Lalwani et al, 1998). This phenotypic variability has previously been explained by an interaction of MITF with lymphoid enhancer‐binding protein (LEF‐1), a crucial factor in the Wnt‐signaling pathway (Wang et al, 2018).…”

Section: Figurementioning

confidence: 99%