Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations.
Consuelo Salas-LabadíaS Gómez-CarmonaR Cruz-AlcívarD Martínez-AnayaV Del Castillo-RuizC Durán-McKinsterV Ulloa-AvilésE Yokoyama-RebollarA Ruiz-HerreraP Navarrete-MenesesE Lieberman-HernándezA González-Del AngelD Cervantes-BarragánC Villarroel-CortésA Reyes-LeónD Suárez-PérezA Pedraza-MeléndezA González-OrsunaP Pérez-VeraPublished in: Orphanet journal of rare diseases (2019)
This group of 73 patients finely described is the largest series of patients with pigmentary mosaicism reported worldwide. As we showed in this study, the followed analysis strategy allowed the detection of cytogenetic and molecular abnormalities, and made possible the establishment of genotype-phenotype associations in some patients. An important limitation of our study was the analysis of fibroblasts cultures instead of melanocytes and keratinocytes. In some cases the direct molecular DNA analysis of skin biopsy could be another choice.