An Ankrd26 Nonsense Somatic Mutation In A Female With Epidermodysplasia Verruciformis (Tree Man Syndrome)

K M Furkan Uddin,Robed Amin,Sabbiha Nadia Majumder,Mohammad Abdul Aleem,Atikur Rahaman,Nushrat Jahan Dity,M D Abdul Baqui,Hosneara Akter,Muhammad Mizanur Rahman,Marc Woodbury-Smith,Stephen Scherer,Mohammed Uddin

CLINICAL CASE REPORTS（2018）

Cited 6|Views17

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Abstract

Key Clinical Message Epidermodysplasia verruciformis (EV) is an extremely rare hereditary skin disease characterized by an abnormal susceptibility to the human papilloma virus (HPV) with an increased risk of cutaneous malignancy. Here we report the first female severe EV case in Bangladesh, a 10-year-old girl with a nonsense somatic mutation impacting ANKRD26 gene.

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Key words

epidermodysplasia verruciformis, nonsense mutation, somatic mutation, whole genome sequencing

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