Universität zu Köln

Schmidt, Julia ORCID: 0000-0002-5942-2924, Schreiber, Gudrun, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Li, Yun, Kaulfuss, Silke, Funke, Rudolf, Wilken, Bernd, Yigit, Goekhan and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2022). Familial cleft tongue caused by a unique translation initiation codon variant in TP63. Eur. J. Hum. Genet., 30 (2). S. 211 - 219. LONDON: SPRINGERNATURE. ISSN 1476-5438

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Schmidt, Julia UNSPECIFIED orcid.org/0000-0002-5942-2924 UNSPECIFIED Schreiber, Gudrun UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Li, Yun UNSPECIFIED UNSPECIFIED UNSPECIFIED Kaulfuss, Silke UNSPECIFIED UNSPECIFIED UNSPECIFIED Funke, Rudolf UNSPECIFIED UNSPECIFIED UNSPECIFIED Wilken, Bernd UNSPECIFIED UNSPECIFIED UNSPECIFIED Yigit, Goekhan UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, Bernd UNSPECIFIED orcid.org/0000-0003-2589-0364 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-596104
DOI:	10.1038/s41431-021-00967-x
Journal or Publication Title:	Eur. J. Hum. Genet.
Volume:	30
Number:	2
Page Range:	S. 211 - 219
Date:	2022
Publisher:	SPRINGERNATURE
Place of Publication:	LONDON
ISSN:	1476-5438
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language FUNCTIONAL-CHARACTERIZATION; P63; MUTATIONS; DOMAIN Multiple languages Biochemistry & Molecular Biology; Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/59610