Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report

BackgroundAmelogenesis 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 presentationWe 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.ConclusionOur 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.

• Publication year

  2015

• Venue

  BMC Oral Health

• Publication date

  2015-01-30

• Fields of study

  Medicine

• Identifiers
  DOI 10.1186/1472-6831-15-14PMID 25636655PMCID 4327795
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2012cited by this paper
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  2011influential reference
• Amelogenesis imperfecta.

  2011cited by this paper
• Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders.

  2009cited by this paper
• Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

  2009cited by this paper
• Oral health status and treatment needs of children and young adults attending a day centre for individuals with special health care needs

  2008cited by this paper
• FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.

  2008cited by this paper
• Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family.

  2008cited by this paper
• The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.

  2008cited by this paper
• MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

  2005cited by this paper
• Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

  2004cited by this paper
• Amelogenesis imperfecta: a classification and catalogue for the 21st century.

  2003cited by this paper
• Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

  2002cited by this paper
• Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.

  2001cited by this paper
• A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1).

  1991cited by this paper

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  2016cites this paper
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  2015cites this paper
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  2015cites this paper
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  2014cites this paper
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  year unknowncites this paper