Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 19/genética , Craniossinostoses , Hemoglobina Fetal/metabolismo , Fatores de Transcrição Kruppel-Like/genética , Transtornos do Desenvolvimento da Linguagem , Transtornos Psicomotores , Craniossinostoses/sangue , Craniossinostoses/genética , Feminino , Hemoglobina Fetal/genética , Humanos , Transtornos do Desenvolvimento da Linguagem/sangue , Transtornos do Desenvolvimento da Linguagem/genética , Masculino , Transtornos Psicomotores/sangue , Transtornos Psicomotores/genéticaRESUMO
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.