8例X连锁隐性遗传鱼鳞病患者的遗传学分析  

Genetic analysis of 8 cases of X-linked recessive ichthyosis

作　　者：林荔[1] 张艳[1] 曾丽娜[1] LIN Li;ZHANG Yan;ZENG Li-na(Center of Prenatal Diagnosis,Affiliated Hospital of Putian University,Putian 351100,China)

机构地区：[1]莆田学院附属医院产前诊断中心,351100

出　　处：《中国现代药物应用》2022年第24期84-87,共4页Chinese Journal of Modern Drug Application

摘　　要：目的对8例X连锁隐性遗传鱼鳞病(异常位点:Xp22.31)患者进行分析,探讨该疾病的可能检出方法及遗传方式。方法8例X连锁隐性遗传鱼鳞病患者,采集其血液或胎儿羊水,应用染色体核型分析及单核苷酸多态性微阵列(SNP-array)检测对患者致病变异进行分析。结果8例患者经遗传学检测,染色体核型分析均未见异常。SNP-array检测结果提示:Xp22.31区段存在1.6 Mb片段的缺失,内含类固醇硫酸酯酶(STS)(300747)等5个在线人类孟德尔遗传(OMIM)基因,该基因突变和缺失与X连锁隐性遗传鱼鳞病相关。此异常为致病性变异。7例产前诊断病例中胎儿孕期多次彩超均未发现明显异常。结论Xp22.31区段微缺失为X连锁隐性遗传鱼鳞病患者的致病原因,孕期血清学筛查、高通量测序、染色体核型分析及SNP-array等多种检测技术的序贯应用明显提高了此类因染色体微缺失或重复导致的遗传病检出率,为临床遗传咨询提供了依据。Objective To explore the possible detection method and genetic mode of the disease by analysis of 8 patients with X-linked recessive ichthyosis(abnormal locus:Xp22.31).Methods 8 patients with X-linked recessive ichthyosis had their blood or fetal amniotic fluid collected and their pathogenic variants were analyzed by applying karyotype analysis and single nucleotide polymorphism array(SNP-array)detection.Results Genetic testing and karyotype analysis of all 8 patients showed no abnormalities.SNP-array detection results suggested the presence of a deletion of a 1.6 Mb fragment in the Xp22.31 segment containing five Online Mendelian Inheritance in Man(OMIM)genes,including steroid sulfatase(STS)(300747),and mutations and deletions in this gene were associated with X-linked recessive ichthyosis.This abnormality was a pathogenic variant.In 7 cases of prenatal diagnosis,no obvious abnormality was found by multiple color Doppler ultrasound during pregnancy.Conclusion The Xp22.31 microdeletion is the pathogenic cause of patients with X-linked recessive ichthyosis.The sequential application of serological screening,high-throughput sequencing,karyotype analysis and SNP-array has significantly improve the detection rate of such genetic diseases caused by chromosomal microdeletions or duplications,providing a basis for clinical genetic counseling.

关 键 词：X连锁隐性遗传鱼鳞病 血清学检测 染色体核型分析 单核苷酸多态性微阵列检测 Xp22.31微缺失 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]