<i>TP63</i>‐mutation as a cause of prenatal lethal multicystic dysplastic kidneys

Friedmann, Isabel; Campagnolo, Carla; Chan, Nancy; Hardy, Ghislain; Saleh, Maha

doi:10.1002/mgg3.1486

Cited by 4 publications

(3 citation statements)

References 21 publications

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“…Furthermore, alternative splicing at the 3ʹend of both the TAp63 and ΔNp63 transcripts generates at least three different C-terminal variants (α, β, and γ) [8,10]. Cleft tongue has not been linked as a characteristic feature to TP63-related disorders until now [21][22][23]. However, other TP63 variants have been described to cause forms of orofacial clefts including cleft lip, cleft palate and cleft uvula [24][25][26].…”

Section: Discussionmentioning

confidence: 99%

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

et al. 2021

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Variants in transcription factor p63 have been linked to several autosomal dominantly inherited malformation syndromes. These disorders show overlapping phenotypic characteristics with various combinations of the following features: ectodermal dysplasia, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypoplastic breasts and/or nipples, ankyloblepharon filiforme adnatum, hypospadias and cleft lip/palate. We describe a family with six individuals presenting with a striking novel phenotype characterized by a furrowed or cleft tongue, a narrow face, reddish hair, freckles and various foot deformities. Whole-exome sequencing (WES) identified a novel heterozygous variant, c.3G>T, in TP63 affecting the translation initiation codon (p.1Met?). Sanger sequencing confirmed dominant inheritance of this unique variant in all six affected family members. In summary, our findings indicate that heterozygous variants in TP63 affecting the first translation initiation codon result in a novel phenotype dominated by a cleft tongue, expanding the complex genotypic and phenotypic spectrum of TP63-associated disorders.

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Section: Discussionmentioning

confidence: 99%

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

et al. 2021

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“…Fifteen case reports 9,15–27 of prenatal diagnosis of EEC syndrome were found, 14 of which were eligible for inclusion in our systematic review (Tables 1, 2 and Figure 3). Moreover, we added our personal case to the tables ( n = 15).…”

Section: Resultsmentioning

confidence: 99%

Ectrodactyly‐ectodermal dysplasia‐clefting syndrome. Prenatal prospective ultrasound diagnosis

Orlandi,

Di Girolamo,

Carbone

et al. 2023

J of Clinical Ultrasound

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ObjectivePrenatal diagnosis of the Ectrodactyly‐Ectodermal dysplasia‐clefting (EEC) syndrome has been based upon the detection of ectrodactyly, in association with facial clefting and/or positive family history. Our aim is to describe other ultrasonographic features indicating the presuntive diagnosis, regardless of genetic diagnosis, especially in cases of negative family history.Materials and MethodsA case report and a review of the literature was assessed.ResultsOur case report showed a singleton foetus “lobster claw” deformities of hands and feet. Paternal history revealed bilateral agenesia of two fingers. Through literature, 15 case reports of prenatal diagnosis of EEC syndrome were found, 14 of which were eligible for our systematic review.The 33% of cases (5/15) had a familiar history of EEC, thus, we found one case of consanguinity of parents. Anomalies EEC‐related were recognized in the 40% of cases (6/15). An association with genitourinary anomalies was found in 30% (5/15) of them.ConclusionsA strong suspicion of final diagnosis of EEC may be done in the presence of ectrodactyly, facial clefting and urinary malformation especially in cases of negative family history. More attention should be given to a genetic counseling, especially to understand a possible relation to other genetic syndromes.

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“…To further delineate the prenatal spectrum of EEC syndrome, we summarized the prenatal EEC cases from the literature. Up to now, only 14 fetal cases have been reported, including our fetus (not limited to the R304W mutation) ( Supplementary Table S1 ) ( Witters et al, 2001 ; Hamada et al, 2002 ; Janssens et al, 2008 ; Simonazzi et al, 2012 ; Gawrych et al, 2013 ; Enriquez et al, 2016 ; Hyder et al, 2017 ; Yang et al, 2017 ; Wenger et al, 2018 ; Liu et al, 2019 ; Friedmann et al, 2020 ). Cleft lip and palate is the most common prenatal ultrasound finding with the highest incidence of 64.3% (9/14).…”

Section: Discussionmentioning

confidence: 99%

Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney

Biwei

Min²,

Wang³

et al. 2022

Front. Genet.

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Ectrodactyly–ectodermal dysplasia–cleft (EEC) syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefting. Reduced penetrance is manifested in these core features and additional under-recognized features, especially in prenatal cases. Here, we present a fetus with EEC syndrome at 22 weeks gestation, in which the cleft lip and palate and the right polycystic kidney are shown by prenatal ultrasound. A de novo missense mutation of R304W in the TP63 gene is confirmed by whole-exome sequencing associated with EEC syndrome. We further investigate the reported TP63-related prenatal cases and provide a more complete picture of the prenatal phenotypic spectrum about EEC. It illustrates the potential severity of genitourinary anomalies in TP63-related disorders and highlights the need to counsel for the possibility of EEC syndrome, given the occurrence of genitourinary anomalies with orofacial cleft or limb deformities.

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TP63‐mutation as a cause of prenatal lethal multicystic dysplastic kidneys

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 4 publications

References 21 publications

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

Ectrodactyly‐ectodermal dysplasia‐clefting syndrome. Prenatal prospective ultrasound diagnosis

Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney

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