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

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Item Type:Article
Title:Familial cleft tongue caused by a unique translation initiation codon variant in TP63
Creators Name:Schmidt, J. and Schreiber, G. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Li, Y. and Kaulfuß, S. and Funke, R. and Wilken, B. and Yigit, G. and Wollnik, B.
Abstract: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.
Keywords:Cleft Lip, Cleft Palate, Initiator Codon, Ectodermal Dysplasia, Tongue, Transcription Factors, Tumor Suppressor Proteins / Genetics
Source:European Journal of Human Genetics
Publisher:Nature Publishing Group
Page Range:211-218
Date:February 2022
Official Publication:https://doi.org/10.1038/s41431-021-00967-x
PubMed:View item in PubMed

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