Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up

Mario Giuffre, Ettore Piro, Giovanni Corsello, Gregorio Serra, Ingrid Anne Mandy Schierz, Lucia Lo Scalzo, Vincenzo Antona

Risultato della ricerca: Articlepeer review

Abstract

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing.
Lingua originaleEnglish
Numero di pagine6
RivistaTHE ITALIAN JOURNAL OF PEDIATRICS
Volume47
Stato di pubblicazionePublished - 2021

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