Ribeiro, Erlane Marques
https://orcid.org/0000-0002-7104-0128
Mayo Clinic
Hospital Infantil Albert Sabin
Citations 2
Disease progression in Sanfilippo type B: Case series of Brazilian patients
Montenegro, Yorran Hardman Araújo , Kubaski, Francyne , Trapp, Franciele Barbosa , Riegel, Mariluce , Souza, Carolina Fischinger Moura de , Ribeiro, Erlane Marques , Cardoso‐dos‐Santos, Augusto César , Ribeiro, Márcia Gonçalves , Castro, Matheus Augusto Araújo , Embiruçu, Emília Katiane, Poswar, Fabiano de Oliveira , Riegel-Giugliani, Mariluce , Cardoso-Dos-Santos, Augusto César , Ribeiro, Márcia Gonçalves , Steiner, Carlos Eduardo , Vairo, Filippo , Baldo, Guilherme , Giugliani, Roberto , de Oliveira Poswar, Fabiano , Ribeiro, E M , Kubaski, Francyne , Lourenco, Charles , Kim, Chong Ae , Vairo, Filippo Pinto e , Baldo, Guilherme , Giugliani, Roberto
Genetics and Molecular Biology | March 12, 2024 | Volume: 47 | Issue: 1 | Pages: No page available
Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients
Santiago, Karina Miranda , Castro, Ligia Pereira , Neto, João Pedreira Duprat , Nóbrega, Amanda França de , Pinto, C. A. L., Ashton‐Prolla, Patrícia , Vairo, Filippo Pinto e , Medeiros, Paula Frassinetti Vasconcelos de , Ribeiro, Erlane Marques , Ribeiro, Bethania F.R. , Doriqui, Maria Juliana R. , Leite, C.H.B. , Rocha, Rafael Malagoli , Moura, Livia Maria Silva , Menck, Carlos Frederico Martins , Rogatto, Sílvia Regina , Achatz, Maria Isabel , Santiago, K M , Castro, L P , Neto, J P D , de Nóbrega, A F , Ashton-Prolla, P , Vairo, Filippo , de Medeiros, P F V , Ribeiro, E M , Ribeiro, B F R , do Valle, F F , Leite, C H B , Rocha, R M , Moura, L M S , Munford, V , Galante, P A F , Menck, C F M , Rogatto, S R , Achatz, M I
Journal of the European Academy of Dermatology and Venereology | April 2, 2020 | Volume: 34 | Issue: 10 | Pages: 2392-2401
Abstract Background Xeroderma pigmentosum (XP) patients present a high risk of developing skin cancer and other complications at an early age. This disease is characterized by mutations in the genes related to the DNA repair system. Objectives To describe the clinical and molecular findings in a cohort of 32 Brazilian individuals who received a clinical diagnosis of XP. Methods Twenty‐seven families were screened for germline variants in eight XP‐related genes. Results All patients ( N = 32) were diagnosed with bi‐allelic germline pathogenic or potentially pathogenic variants, including nine variants previously undescribed. The c.2251‐1G>C XPC pathogenic variant, reported as the founder mutation in Comorian and Pakistani patients, was observed in 15 cases in homozygous or compound heterozygous. Seven homozygous patients for POLH/XPV variants developed their symptoms by an average age of 7.7 years. ERCC2 / XPD , DDB2 / XPE and ERCC5 / XPG variants were found in a few patients. Aside from melanoma and non‐melanoma skin tumours, a set of patients developed skin sebaceous carcinoma, leiomyosarcoma, angiosarcoma, mucoepidermoid carcinoma, gastric adenocarcinoma and serous ovarian carcinoma. Conclusions We reported a high frequency of XPC variants in 32 XP Brazilian patients. Nine new variants in XP‐related genes, unexpected non‐skin cancer lesions and an anticipation of the clinical manifestation in POLH/XPV cases were also described.