[1例新生儿先天性鱼鳞病患儿的临床表型及TGM1基因突变分析]

[Analysis of clinical phenotype and TGM1 gene mutation in a child with neonatal congenital ichthyosis].

作者信息

Hu Qinghua, Yi Lijun, Chen Ka, Zhou Jing, Chen Liping, Zeng Lichun, Li Hong

机构信息

Central Laboratory, Jiangxi Provincial Children's Hospital, Nanchang, Jiangxi 330006, China. Email:

Department of Neonatology, Jiangxi Provincial Children's Hospital, Nanchang, Jiangxi 330006, China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Apr 10;36(4):357-359. doi: 10.3760/cma.j.issn.1003-9406.2019.04.016.

DOI:10.3760/cma.j.issn.1003-9406.2019.04.016

PMID:30950025

Abstract

OBJECTIVE

To explore the genetic cause for a child with congenital ichthyosis.

METHODS

The child was subjected to next generation sequencing using a specific gene panel. Suspected mutation was validated by Sanger sequencing.

RESULTS

The proband was found to harbor compound heterozygous mutations c.327delG (p.Met109Ilefs*2) and c.791G>A (p.Arg264Gln) of the TGM1 gene, which were respectively inherited from his mother and father. The same mutations were not found among 101 healthy controls. c.327delG was not reported previously. By bioinformatic analysis, both mutations are likely to impair the function of TGase-1 protein.

CONCLUSION

The compound heterozygous mutations of c.327delG and c.791G> A of the TGM1 gene probably underlie the ichthyosis in the proband. The result has facilitated prenatal diagnosis for this pedigree.

摘要

目的

探究一名先天性鱼鳞病患儿的遗传病因。

方法

使用特定基因检测板对该患儿进行下一代测序。通过桑格测序验证疑似突变。

结果

先证者被发现携带转谷氨酰胺酶1（TGM1）基因的复合杂合突变c.327delG（p.Met109Ilefs*2）和c.791G>A（p.Arg264Gln），分别遗传自其母亲和父亲。在101名健康对照中未发现相同突变。c.327delG此前未见报道。通过生物信息学分析，两种突变均可能损害转谷氨酰胺酶-1蛋白的功能。