1例先天性牙根发育不良患儿致病基因的筛选及突变分析

Screening causative gene and analyzing mutation from a child with congenital hypoplasia of teeth roots.

目的:收集及分析1例先天性牙根发育不良病例,探讨该疾病的实质病因。方法:采用临床、实验室检查和遗传学方法对患儿进行临床病理诊断及致病基因筛选,并通过基因测序方法探寻其突变位点。结果:该例牙根发育不良患儿诊断为伴发短根症的低碱性磷酸酯酶症,筛选致病候选基因为ALPL基因,基因突变型为583G>A,R136H。结论:该例牙根发育不良病例初步认为是ALPL基因突变导致的遗传性疾病。

Objective： To explore the genetic pathogeny by analyzing a child with congenital Hypoplasia of Teeth Roots. Method： The child with hypoplasia of teeth root were examined and analyzed carefully by clinical examination, laboratory test,and genetic methods to get a clinical diagnosis and find candidate gene about this disease. Then gene mutation was screened by sequencing. Result：The patients were assessed as hypophosphatasia with short-root anomaly （SRA）. Candidate gene is ALPL gene, and mutation type is 583G〉A, R136H. Conclusion：This disease was regarded as a genetic disease resulted by ALPL gene mutation.