title: Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco. imane_cj@yahoo.fr.|Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco. imane_cj@yahoo.fr.
authors: Imane
authors: I
authors: Cherkaoui Jaouad
authors: Service d'odontologie pédiatrique, Faculté de médecine dentaire, Université Mohammed V, Rabat, Morocco. elalloussi99@yahoo.fr.
authors: Mustapha
authors: M
authors: El Alloussi
authors: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco. sihamgen@yahoo.fr.|Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco. sihamgen@yahoo.fr.
authors: Siham
authors: S
authors: Chafai El Alaoui
authors: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco. fz_laarabi@yahoo.fr.|Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco. fz_laarabi@yahoo.fr.
authors: Fatima Zahra
authors: FZ
authors: Laarabi
authors: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco. jaber.lyahyai@gmail.com.
authors: Jaber
authors: J
authors: Lyahyai
authors: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco. sefianigen@hotmail.com.|Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco. sefianigen@hotmail.com.
authors: Abdelaziz
authors: A
authors: Sefiani
mesh_terms: D000409:Alanine / Q000235:genetics; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D003596:Cytosine; D003746:Dental Enamel Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005351:Fibromatosis, Gingival / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics; D005885:Gingival Hyperplasia / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007930:Leucine / Q000235:genetics; D009018:Morocco; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome; D013941:Thymine
chemical_list: D018389:Codon, Nonsense; D003746:Dental Enamel Proteins; C571509:FAM20A protein, human; D003596:Cytosine; D007930:Leucine; D000409:Alanine; D013941:Thymine
references: Hum Mol Genet. 2001 Aug 1;10(16):1673-7
references: 11487571
references: Hum Mol Genet. 2014 Apr 15;23(8):2189-97
references: 24319098
references: Oral Dis. 2003 Jan;9(1):19-23
references: 12617253
references: J Med Genet. 2004 Jul;41(7):545-9
references: 15235027
references: Genomics. 1991 Aug;10(4):971-5
references: 1916828
references: J Med Genet. 2005 Mar;42(3):271-5
references: 15744043
references: Am J Hum Genet. 2008 Feb;82(2):489-94
references: 18252228
references: J Periodontol. 2008 Jul;79(7):1287-96
references: 18597613
references: Eur J Med Genet. 2008 Jul-Aug;51(4):273-91
references: 18499550
references: J Biosoc Sci. 2009 Sep;41(5):575-81
references: 19433002
references: Am J Hum Genet. 2009 Nov;85(5):699-705
references: 19853237
references: Am J Hum Genet. 2011 May 13;88(5):616-20
references: 21549343
references: Hum Mutat. 2012 Jan;33(1):91-4
references: 21990045
references: Am J Hum Genet. 2012 Sep 7;91(3):565-71
references: 22901946
references: Am J Hum Genet. 2013 Feb 7;92(2):307-12
references: 23375655
references: Eur J Hum Genet. 2014 Jan;22(1):132-5
references: 23632796
references: J Invest Dermatol. 2002 Dec;119(6):1275-81
references: 12485428