2012
DOI: 10.1111/j.1365-4632.2011.05375.x
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ADULT syndrome due to an R243W mutation in TP63

Abstract: Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare, autosomal dominant form of ectodermal dysplasia due to TP63 mutations. ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome. ADULT syndrome is characterized by ectrodactyly, syndactyly, and excessive freckling, in addition to more typical ectodermal defects, … Show more

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Cited by 13 publications
(8 citation statements)
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“…Recently, R243W (previously referred to in the literature as R204W) mutation, reported as an EEC syndrome mutation, was also identified as the causative gene mutation of ADULT syndrome. 7,8 …”
Section: Discussionmentioning
confidence: 99%
“…Recently, R243W (previously referred to in the literature as R204W) mutation, reported as an EEC syndrome mutation, was also identified as the causative gene mutation of ADULT syndrome. 7,8 …”
Section: Discussionmentioning
confidence: 99%
“…Clinical data of 40 cases of ADULT syndrome were reviewed [Amiel et al, 2001;O'Brien et al, 2002;Chan et al, 2004;Slavotinek et al, 2005;Eter et al, 2006;Reisler et al, 2006;Rinne et al, 2006;Kier-Swiatecka et al, 2007;van der Zwaag et al, 2009;van Zelst-Stams et al, 2009;Wang et al, 2009;de Almeida et al, 2010;Avitan-Hersh et al, 2010;Prontera et al, 2011;Serra et al, 2011;Berk et al, 2012;Kiritsi et al, 2015]. Table 1 shows the comparison of ADULT syndrome findings with our patients.…”
Section: Discussionmentioning
confidence: 99%
“…These include watch glass nails [Propping and Zerres, 1993]; small mouth and multiple oral frenula [Amiel et al, 2001]; bifid phalanx [O'Brien et al, 2002;Reisler et al, 2006]; imperforate anus, brachydactyly, and incomplete fusion of the right inner canthus [Slavotinek et al, 2005]; sensorioneural and conductive hearing loss [Reisler et al, 2006;Prontera et al, 2011]; arrhythmogenic right ventricular cardiomyopathy, trichorrhexis nodosa [van der Zwaag et al, 2009]; alacrima [van Zelst-Stams et al, 2009]; pre-axial polydactyly [Berk et al, 2012] as well as vesicoureteral reflux and urinary retention [Reisler et al, 2006]. ADULT syndrome was described as extremely variable, and there was a phenotypic overlap with other ectodermal dysplasias caused by TP63 mutations.…”
Section: Discussionmentioning
confidence: 99%
“…Decay [10][11][12][13], xerostomia [4,8,14], hypodontia [1,4,[7][8][9][14][15][16][17][18][19] and premature loss of permanent teeth are commonly reported features in ADULT syndrome. However, these oral features have been largely unexplored within the scientific community.…”
Section: Discussionmentioning
confidence: 99%
“…This syndrome was first described in 1993 by Propping and Zerres [1][2][3]. The prevalence is 1 in 1000000 and it is inherited autosomal-dominantly [4]. Heterozygous mutations in P63 gene have been identified as the cause [5].…”
Section: Introductionmentioning
confidence: 99%