少汗型外胚叶发育不全一家系EDA基因突变及染色体核型特征分析

Karyotype Features and EDA Gene Mutation of one Family with Hypohidrotic Ectodermal Dysplasia in Ningxia

目的收集少汗型外胚叶发育不全家系1个,分析家系特点、致病基因型及染色体核型,探讨其发病的遗传学机制,为遗传咨询及产前筛查提供依据。方法采用家系调查和临床检查的方法,对先证者无汗性外胚叶发育不全(EDA)家系成员进行临床表现和遗传方式分析。利用直接测序法和G显带技术对家系EDA基因8个外显子进行突变检测及核型分析。结果收集到的外胚叶发育不全家系为X连锁隐性遗传,男性患者临床表现典型,女性患者有轻度临床表现,家系内表现度差异小。患者II4 EDA基因第8外显子单碱基错义突变,为G108A,该突变位点是国内首次报道,核型未见异常。结论该EDA家系患者临床特征明显,家系II4的EDA基因第8外显子G108A单碱基突变是核心家系少汗型外胚叶发育不全的致病原因,染色体核型可以无异常。

Objective To collect a family with hypohidrotic ectodermal dysplasia and to analyze phenotypic characteristics,mode of inheritance,pathogenic genotype and karyotype and to explore the pathogenesis and genetic factors provide a basis for genetic counseling and prenatal screening. Methods Pedigree investigation and clinical examination methods was used to proband EDA clinical manifestations pedigree analysis and genetic methods. The family DEA gene exon 8 mutations and chromosome were analyzed by using pedigree analysis,direct sequencing method and G-banding technique. Results The collected family with ectodermal dysplasia was X-linked recessive inheritance,and typical clinical manifestations in male patients mild clinical manifestations in female patients,and a little differences within the family expressivity. Patients with pedigree II4 EDA gene exon 8 single base missense mutation was G108 A and this mutation site was the first report and there was no abnormal karyotype. Conclusion This study collected an EDA pedigree and clinical features is clear. EDA gene family II4 first exon 8 G108 A single base mutation is the core family hypohidrotic ectodermal dysplasia of causes and karyotype is not abnormal.