中国汉族不伴唇腭裂的缺指（趾）-外胚层发育异常-唇腭裂综合征TP63基因的杂合性突变一例

Heterozygous TP63 mutation in a Chinese patient with ectrodactyly-ectodermal dysplasia clefting syndrome without clefting

目的 研究不伴唇腭裂表现的缺指（趾）-外胚层发育异常-唇腭裂（ectrodactylyectodermal dysplasia clefting,EEC）综合征1例患者的TP63基因突变,探讨该病基因型与表型的关系.方法 利用DNA单链构象多态性实验对1个中国汉族不伴唇腭裂表现的EEC综合征核心家系进行突变初筛,聚合酶链反应扩增目的 基因片段,直接测序进行突变检测,以200名无先天性缺牙的健康者作为对照.结果 在患者TP63基因第7外显子cDNA838位存在C＞T的单碱基杂合性点突变,使其编码的第280位精氨酸替换为半胱氨酸（Arg280Cys,R280C）.患者父母在该位点均显示正常的野生基因型.结论 TP63基因的单碱基杂合性突变（Arg280Cys,R280C）是引起该患者EEC综合征的致病原因,此突变为新生突变.

Objective To determine if alteration in TP63 is responsible for a Chinese patient with ectrodactyly-ectodermal dysplasia clefting （EEC） syndrome, but without cleft palate/lip. Methods Screening of TP63 gene was performed in the patient with EEC syndrome and his family members using PCR-single strand conformational polymorphism （SSCP） analysis, then performed by direct sequencing of the coding region. Results A C 〉 T substitution at nucleotide position 838 in exon 7 was detected in the patient, and the change predicted a heterozygous missense mutation, Arg280Cys. His parents showed the wild type. Conclusions The results indicate that the de novo mutation Arg280Cys of the TP63 gene observed in the patient maybe contribute to his EEC syndrome.