Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 19/genética , Craneosinostosis , Hemoglobina Fetal/metabolismo , Factores de Transcripción de Tipo Kruppel/genética , Trastornos del Desarrollo del Lenguaje , Trastornos Psicomotores , Craneosinostosis/sangre , Craneosinostosis/genética , Femenino , Hemoglobina Fetal/genética , Humanos , Trastornos del Desarrollo del Lenguaje/sangre , Trastornos del Desarrollo del Lenguaje/genética , Masculino , Trastornos Psicomotores/sangre , Trastornos Psicomotores/genéticaRESUMEN
BACKGROUND: Amelogenesis imperfecta represents a group of developmental conditions, clinically and genetically heterogeneous, that affect the structure and clinical appearance of enamel. Amelogenesis imperfecta occurred as an isolated trait or as part of a genetic syndrome. Recently, disease-causing mutations in the FAM20A gene were identified, in families with an autosomal recessive syndrome associating amelogenesis imperfecta and gingival fibromatosis. CASE PRESENTATION: We report, the first description of a Moroccan patient with amelogenesis imperfecta and gingival fibromatosis, in whom we performed Sanger sequencing of the entire coding sequence of FAM20A and identified a homozygous mutation in the FAM20A gene (c.34_35delCT), already reported in a family with this syndrome. CONCLUSION: Our finding confirms that the mutations of FAM20A gene are causative for amelogenesis imperfecta and gingival fibromatosis and underlines the recurrent character of the c.34_35delCT in two different ethnic groups.