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Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

机译：产卵不全症：71个家庭的基因型-表型研究

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Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of enamel. Six genes are known to cause AI (AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72). Our aim was to determine the distribution of different gene mutations in a large AI population and evaluate phenotype-genotype relationships. Affected and unaffected family members were evaluated clinically and radiographically by one examiner. Genotyping was completed using genomic DNA obtained from blood or saliva. A total of 494 individuals were enrolled, with 430 (224 affected, 202 unaffected, and 4 not definitive) belonging to 71 families with conditions consistent with the diagnosis of AI. Diverse clinical phenotypes were observed (i.e. hypoplastic, hypocalcified, and hypomaturation). Genotyping revealed mutations in all 6 candidate genes. A molecular diagnosis was made in 132 affected individuals (59%) and in 26 of the families (37%). Mutations involved 12 families with FAM83H (46%), 6 families with AMELX (23%), 3 families with ENAM (11%), 2 families with KLK4 and MMP20 (8% for each gene), and 1 family with a WDR72 mutation (4%). Phenotypic variants were associated with allelic FAM83H and AMELX mutations. Two seemingly unrelated families had the same KLK4 mutation. Families affected with AI where candidate gene mutations were not identified could have mutations not identifiable by traditional gene sequencing (e.g. exon deletion) or they could have promoter sequence mutations not evaluated in this study. However, the results suggest that there remain new AI causative genes to be identified.
机译：促釉不全（AI）代表遗传条件，影响釉质的质量和数量。已知有六个基因可引起AI（AMELX，ENAM，MMP20，KLK4，FAM83H和WDR72）。我们的目的是确定在大型AI人群中不同基因突变的分布，并评估表型与基因型之间的关系。一位检查员对患病和未患病的家庭成员进行了临床和影像学评估。使用从血液或唾液获得的基因组DNA完成基因分型。共有494位患者入组，其中430位（224位受影响，202位未受影响，4位不确定）属于71个家庭，其病情与AI的诊断相符。观察到多种临床表型（即发育不良，钙化不足和发育不全）。基因分型揭示了所有6个候选基因的突变。对132名受感染的个体（59％）和26个家庭（37％）进行了分子诊断。突变涉及12个FAM83H家族（46％），6个AMELX家族（23％），3个ENAM家族（11％），2个KLK4和MMP20家族（每个基因8％）和1个WDR72突变家族（4％）。表型变异与等位基因FAM83H和AMELX突变相关。两个看似无关的家族具有相同的KLK4突变。未感染候选基因突变的AI家族可能具有传统基因测序无法鉴定的突变（例如外显子缺失），或者本研究未评估其启动子序列突变。但是，结果表明，仍有新的AI致病基因需要鉴定。

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