摘要
目的:对1例交界型大疱性表皮松解症患儿家系进行基因分析。方法:收集1例交界型大疱性表皮松解症患儿临床资料,提取患儿及其父母外周血DNA进行全基因组外显子测序。结果:患儿存在复合杂合突变,共携带2个致病突变,即LAMB3基因c.202_205delAAGT和c.975T>A突变,LAMB3c.202_205delAAGT变异位点来自父亲,导致第68位氨基酸由赖氨酸变为缬氨酸并改变阅读框,使编码蛋白序列提前终止;LAMB3c.975T>A变异位点来自母亲,发生在蛋白Laminin EGF domain结构域,该无义突变会导致第325位氨基酸由半胱氨酸变为终止密码子,产生截短蛋白或被降解。结论:该患儿是由LAMB3基因c.202_205delAAGT和c.975T>A复合杂合突变所致的常染色体隐性遗传病,2个位点突变尚未见先例报道,补充了目前JEB的突变位点库,为患儿及其家属遗传咨询提供可靠依据。
Objective:Genetic analysis was performed on a child pedigree with junctional epidermolysis bullosa.Methods:The clinical data of 1 children with junctional epidermolysis bullosa were collected.Peripheral blood DNA of the children and their parents was extracted for whole genome exon sequencing.Results:The children had complex heterozygous mutation and carried two disease-causing mutations,namely,LAMB3 gene c.202_205delAAGT and c.975T>A mutations.The mutation site of LAMB3c.202_205delAAGT came from the children's father,leading to the change of amino acid at position 68 from lysine to valine and changed reading frame,resulting in the premature termination of the coding protein sequence.LAMB3c.975T>A occurring in the protein Laminin EGF domain came from the children's mother.The nonsense mutation changed the amino acid 325 from cysteine to termination codon,producing truncated proteins or being degraded.Conclusion:The child sufferd from autosomal recessive genetic disease caused by complex heterozygous processes with LAMB3 gene c.202_205delAAGT and c.975T>A.This two site mutations have not been reported.This study complemented the current JEB mutation site library and provided reliable genetic counseling for children and their families.
作者
刘莹
安玉琴
LIU Ying;AN Yu-qin(The First Affiliated Hospital of Shihezi University School of Medicine,XinJiang Shihezi,832008;The People's Hospital of Shihezi,XinJiang Shihezi,832000)
出处
《农垦医学》
2021年第5期478-480,共3页
Journal of Nongken Medicine
基金
石河子大学医学院第一附属医院院级科技计划项目(QN202024)。
