ZMPSTE24基因杂合变异致不典型下颌骨发育不良伴B型脂肪代谢障碍1例  

A case of atypical cranial and mandibular skin dysplasia B caused by heterozygous variation of ZMPSTE24 gene

作　　者：章素芬 徐鸿泽 胡幼芳 ZHANG Sufen;XU Hongze;HU Youfang(Department of Child Health,Jiangsu Women and Children Health Hospital,Nanjing,Jiangsu 210000,China)

机构地区：[1]江苏省妇幼保健院儿童保健科,江苏南京210000

出　　处：《中国优生与遗传杂志》2022年第9期1640-1643,共4页Chinese Journal of Birth Health & Heredity

基　　金：江苏省妇幼健康重点学科项目(FXK201705);中国基本预防控制中心妇幼保健中心“母婴营养与健康研究项目”(2021FY004)。

摘　　要：目的 报道1例ZMPSTE24基因复合杂合变异c.743C>T(p.P248L)/loss1(EXON:1-10)(all)导致的下颌骨发育不良伴B型脂肪代谢障碍(MADB,OMIM#608612)病例,总结临床特征及基因突变的特点,为进一步了解MADB提供参考。方法 对1例ZMPSTE24基因复合杂合变异的不典型MADB患儿的临床资料和测序结果进行分析,结合人类基因突变数据库和PubMed,对ZMPSTE24基因突变所致疾病临床表型进行文献复习。结果 1例患儿具有MADB临床表型,外周血染色体及基因测序检测到ZMPSTE24基因复合杂合变异(c.743C>T (p.P248L)/loss1(EXON:1-10)(all)),查询MAF数据库、gnomAD数据库和千人基因组数据库,目前未见该变异类型。结论 本例检测到的ZMPSTE24基因复合杂合变异与MADB高度相关。本研究提示ZMPSTE24基因存在多种变异形式,可导致多种形式的临床表型,基因检测可明确诊断。早期基因诊断可为临床及时干预和遗传咨询提供依据。Object To report a case of complex heterozygous variation of ZMPSTE24 gene: C.743C>T(p.P248L)/loss1(EXON:1-10)(all), a case of Mandibular dysplasia with Type B lipodystrophy(MADB, OMIM#608612). The clinical characteristics and gene mutation characteristics were summarized to provide reference for further understanding MADB.Methods The clinical data and sequencing results of a case of atypical MADB with ZMPSTE24 gene complex heterozygous variation were analyzed, and the clinical phenotypes of ZMPSTE24 gene mutation-induced disease were reviewed by combining human gene mutation database(HGMD) and PubMed. Results One child had MADB clinical phenotype, and her ZMPSTE24 gene complex heterozygous variation(C.743C>T(p.P248L)/loss1(EXON:1-10)(all)) was detected by peripheral blood chromosome and gene sequencing. MAF database, gnomAD database and 1000 genome database did not find this variant type yet. Conclusion The complex heterozygous variation of ZMPSTE24 gene detected in this case is highly correlated with MADB. This study suggested that ZMPSTE24 gene has various forms of gene variation, resulting in a variety of clinical phenotypes, gene testing can be clearly diagnosed. Early genetic diagnosis can provide basis for clinical timely intervention and genetic counseling.

关 键 词：ZMPSTE24基因 下颌骨发育不良伴B型脂肪代谢障碍 表型 

分 类 号：R725.8[医药卫生—儿科]