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

Table 1 Table summarizing different mutations reported in the FAM20A gene and their associated phenotype in patients with AIGFS

Mutation	Phenotype	Reference
c.406C > T (p.Arg136Ter)	Thin generalized hypoplastic AI, intrapulpal calcifications, delayed tooth eruption, failure of tooth development	O’Sullivan et al. [15]
c.406C > T (p.Arg136Ter)	Mental retardation	O’Sullivan et al. [15]
c.34_35delCT	Generalized hypoplastic enamel , failed eruption of permanent teeth with dilaceration of the root, severe generalized gingival hyperplasia, agenesis of the left mandibular second premolar	Cho et al. [16]
c.34_35delCT	Hypoplastic AI affecting primary and permanent dentition, generalized gingival hyperplasia, the crowns were short, yellow-brown, and covered with little or no enamel, supra-incisive diastema.	Our case
c.813-2A > G	Generalized hypoplastic enamel failed eruption of permanent teeth with dilaceration of the root, mild localized gingival hyperplasia, especially in the anterior maxillary region.	Cho et al. [16]
c.1175_1179delGGCTC	Hypoplastic enamel , failed eruption of permanent teeth with dilaceration of the root, and mild localized gingival hyperplasia, especially in the anterior maxillary region.	Cho et al. [16]
c.590-2A > G	Generalized hypoplastic enamel failed eruption of permanent teeth with dilaceration of the root, mild localized gingival hyperplasia	Cho et al. [16]
c.826C > T		Cho et al. [16]

ISSN: 1472-6831