A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia

Asuka Hori; Ohsuke Migita; Nobutaka Isogawa; Fumio Takada; Kenichiro Hata

doi:10.1038/s41439-022-00186-w

A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia

Hum Genome Var. 2022 May 20;9(1):17. doi: 10.1038/s41439-022-00186-w.

Authors

Asuka Hori^{1

2

3}, Ohsuke Migita^{3

4}, Nobutaka Isogawa⁵, Fumio Takada^{1

2}, Kenichiro Hata⁶

Affiliations

¹ Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences, Kanagawa, Japan.
² Department of Genetics and Genomics, Kitasato University Hospital, Kanagawa, Japan.
³ Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
⁴ Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
⁵ Division of Pedodontics/Orthodontics, Department of Surgical Specialties, National Center for Child Health and Development, Tokyo, Japan.
⁶ Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan. hata-k@ncchd.go.jp.

Abstract

Ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome are well-known TP63-related autosomal-dominant genetic disorders with various similar ectodermal dysplasias. In this study, whole-exome sequencing revealed a novel, potentially pathogenic TP63 nonsense variant (NM_001114980.2:c.25 C > T: p.Gln9Ter) in a patient with an atypical clinical phenotype. This variant was detected near translation initiation sites and has an effect only on ΔNp63α, the short isoform protein product of the TP63 gene.

Abstract

Grants and funding