摘要目的:探究1例新生儿板层状鱼鳞病(lamellar ichthyosis，LI)的临床表现及其家系基因转谷氨酰胺酶1 TGM1的基因突变分析。 方法:回顾性分析2020年3月在枣庄市妇幼保健院就诊的1例患有LI的新生儿的临床资料进行分析。结果:患儿 TGM1基因存在c.2347_2385del(p.Q783_F795 del)及c.1497T>G(p.N499K)的复合杂合变异。遗传自母亲的突变c.2347_2385del(p.Q783_F795 del)，在转谷氨酰胺酶C蛋白的功能域内；遗传自父亲的突变c.1497T>G(p.N499K)，在转谷氨酰胺酶蛋白和转谷氨酰胺酶C蛋白的功能域之间。 结论:TGM1基因的c.2347_2385del(p.Q783_F795 del)及c.1497T>G(p.N499K)的复合杂合变异为该例板层状鱼鳞病新生儿的致病变异类型，该项研究的结果为LI的诊断提供了分子学基础。

abstractsObjective:To investigate the clinical manifestations of a neonate with lamellar ichthyosis and analyze transglutaminase1 ( TGM1) gene mutation in the family. Methods:Retrospective analysis of clinical data of a newborn with LI who visited Meternity and child health care of zaozhuang in March 2020.Result:There were c. 2347_2385del (p.Q783_F795 del) and c. 1497T>G (p.N499K) compound heterozygous variants of TGM1 gene in the neonate, which have never been reported anywhere in the world. The mutation c. 2347_2385del (p.Q783_F795 del) was inherited from the mother and located in the transglutaminase C functional domain of the protein. The mutation c. 1497T>G (p.N499K) was inherited from the father and located between the transglutaminase/proteinase-like homology domain (TGc) and the transglutaminase C domain. None of the mutations was found in the 100 unrelated normal controls. Conclusion:TGM1 gene c. 2347_2385del (p.Q783_F795 del) and c. 1497T>G (p.N499K) compound heterozygous variation is the pathogenic cause of the neonate. The results of this study provide a molecular basis for the diagnosis of this disease.