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.
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Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes.
J Clin Med
November 2023
Fondazione Banca Degli Occhi del Veneto, 30174 Venice, Italy.
Background/aims: The Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-ectodermal defect-cleft lip/palate (AEC) syndromes are rare autosomal dominant diseases caused by heterozygous mutations in the p63 gene. Patients are characterized by abnormalities of the skin, teeth, and hair and have limb defects, orofacial clefting and ectodermal dysplasia. In addition, they often show ocular surface alterations, leading to progressive corneal clouding and eventually blindness.
View Article and Find Full Text PDFA novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.
Hum Genome Var
May 2022
Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
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.
View Article and Find Full Text PDFRare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome.
Int J Trichology
January 2018
Department of Dermatology, Base Hospital Delhi Cantt, New Delhi, India.
Ankyloblepharon-ectodermal defect-cleft lip/cleft palate (AEC) syndrome is one of the variants of ectodermal dysplasia. It is an autosomal dominant disorder comprising of ankyloblepharon, ectodermal dysplasia, and cleft palate or cleft lip. In 1976, it wasfirst described by Hay and Wells, therefore also known as Hay-Wells syndrome.
View Article and Find Full Text PDFScalp erosion in ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC syndrome): treatment with acellular dermal matrix.
J Craniofac Surg
January 2013
Department of Plastic and Reconstructive Surgery, Keck School of Medicine, University of Southern California, Los Angeles, CA 90027, USA.
Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC syndrome, also known as Hay-Wells syndrome) is an autosomal dominant disease caused by mutation in the p63 gene that is primarily characterized by facial clefting, presence of ankyloblepharon, ectodermal dysplasia, and scalp erosion. Scalp erosion is perhaps the most debilitating manifestation of AEC due to its problematic treatment that is fraught with failure given the underlying pathology of the p63 mutation causing dysfunctional wound healing. Management is often targeted in a stepwise fashion, beginning with daily baths, light debridement, and emollients and progressing to extensive skin excision.
View Article and Find Full Text PDFGrowth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome.
Am J Med Genet A
September 2009
Department of Pediatrics, USDA/ARS Children's Nutrition Research Center, Baylor College of Medicine, 1100 Bates Street, Houston, TX 77030, USA.
Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) is a rare genetic disorder due to mutations in the TP63 gene. In the present study, we characterized the pattern of growth and body composition and the nutritional and gastrointestinal aspects of children and adults (n = 18) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth weight and height-for-age z-scores of the AEC patients were significantly lower than those of the reference population.
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