摩洛哥因果关系FAM20A突变的进一步证据及牙釉质发育不全和牙龈增生综合征首例病例报告：病例报告
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
作者信息
Cherkaoui Jaouad Imane, El Alloussi Mustapha, Chafai El Alaoui Siham, Laarabi Fatima Zahra, Lyahyai Jaber, Sefiani Abdelaziz
机构信息
Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco.
Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.
出版信息
BMC Oral Health. 2015 Jan 30;15:14. doi: 10.1186/1472-6831-15-14.
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.
背景
釉质发育不全是一组发育性疾病，在临床和遗传方面具有异质性，会影响牙釉质的结构和临床表现。釉质发育不全可作为一种孤立的性状出现，也可作为遗传综合征的一部分。最近，在患有常染色体隐性综合征（该综合征伴有釉质发育不全和牙龈纤维瘤病）的家庭中，发现了FAM20A基因中的致病突变。
病例报告
我们报告了首例患有釉质发育不全和牙龈纤维瘤病的摩洛哥患者，我们对FAM20A的整个编码序列进行了桑格测序，并在FAM20A基因中发现了一个纯合突变（c.34_35delCT），该突变已在患有此综合征的一个家庭中报道过。
结论
我们的发现证实FAM20A基因的突变是导致釉质发育不全和牙龈纤维瘤病的原因，并强调了c.34_35delCT在两个不同种族群体中的复发性特征。
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