溶酶体调节转运蛋白基因c.421C>T纯合变异致成年型Chediak-Higashi综合征一例

Lysosomal trafficking regulator gene c.421C>T homozygous mutation causes adult Chediak-Higashi syndrome:one case report

总结1例表现为步态异常的成年型Chediak-Higashi综合征患者的临床资料,并对其溶酶体调节转运蛋白(LYST)基因进行变异分析。应用全外显子测序及Sanger测序验证,同时对其家系成员进行验证。测序结果显示先证者LYST基因存在c.421C>T(p.Arg141*)纯合变异,其父母该位点为杂合携带。查阅人类基因变异数据库未见该变异类型报道,根据美国医学遗传学及基因组学会遗传变异解读指南,c.421C>T变异被判定为致病性变异。

The mutation of lysosomal trafficking regulator(LYST)gene and the clinical data of an adult patient who showed an abnormal gait with Chediak-Higashi syndrome were analyzed retrospectively.The whole exon sequencing was applied,and Sanger sequencing was used to verify the results.All members of the family were genetically verified for the same mutation site.The sequencing revealed the presence of c.421C>T(p.Arg141*)mutation in LYST gene in the proband,which was inherited from his parents.The mutation was found in the homozygous state for the proband,both his parents being heterozygous for the same mutation.This mutation type was not reported in the human gene mutation database.According to the American Society of Medical Genetics and Genomic Society′s guide to the interpretation of genetic variation,the mutation of c.421C>T was identified to be pathogenic.