ISSN: 0034-8376
eISSN: 2564-8896






Next-Generation Sequencing Identifies a Homozygous Nonsense p.Tyr370* Mutation of the TMC6 Gene in a Mexican Pedigree with Epidermodysplasia Verruciformis



Samantha López-Ramírez, Genetics Program, Faculty of Medicine, Universidad Nacional Autónoma de México (UNAM) and Centro Médico Nacional "20 de Noviembre" (ISSSTE), Mexico City, Mexico
Yuritzi Santillán-Hernández, Genetics Program, Faculty of Medicine, Universidad Nacional Autónoma de México (UNAM) and Centro Médico Nacional "20 de Noviembre" (ISSSTE), Mexico City, Mexico
Eugenio Carrasco-Gerard, Dermatology Program, Faculty of Medicine, UNAM and Hospital General de México "Dr. Eduardo Liceaga", Mexico City, Mexico
Agustín Rodas-Serrano, Genetics and Molecular Biology Service, Mount Sinai Hospital, Cuenca, Ecuador
Juan C. Zenteno, Genetics Department Research Unit, Instituto de Oftalmología Conde de Valenciana and epartment of Biochemistry, Faculty of Medicine, Universidad Nacional Autónoma de México, Mexico City, Mexico


Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by abnormal susceptibility to infection with b-genotype human papillomavirus (HPV) and a particular propensity to develop cutaneous malignancies. Clinical manifestations include flat, scaly, reddish hypo- and hyperpigmented macules, verruca-like papillomatous lesions, seborrheic keratosis-like lesions, and pink-red pityriasis versicolor-like lesions1.



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