Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 19/genetics , Craniosynostoses , Fetal Hemoglobin/metabolism , Kruppel-Like Transcription Factors/genetics , Language Development Disorders , Psychomotor Disorders , Craniosynostoses/blood , Craniosynostoses/genetics , Female , Fetal Hemoglobin/genetics , Humans , Language Development Disorders/blood , Language Development Disorders/genetics , Male , Psychomotor Disorders/blood , Psychomotor Disorders/geneticsABSTRACT
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.
