Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
02 2022
02 2022
Historique:
received:
05
05
2021
accepted:
13
09
2021
revised:
06
08
2021
pubmed:
12
10
2021
medline:
5
4
2022
entrez:
11
10
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34629465
doi: 10.1038/s41431-021-00967-x
pii: 10.1038/s41431-021-00967-x
pmc: PMC8821562
doi:
Substances chimiques
Codon, Initiator
0
TP63 protein, human
0
Transcription Factors
0
Tumor Suppressor Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
211-218Informations de copyright
© 2021. The Author(s).
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