Han Rui, Duan Ling, Wu Shuang, Liu Xiaoran
Laboratory of Prenatal Diagnostic Center, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):265-267. doi: 10.3760/cma.j.issn.1003-9406.2018.02.027.
To explore the genetic cause for a Uyghur Chinese child with collodion skin.
G-banded chromosomal karyotyping was carried out for the child and his parents. High-throughput sequencing for 25 genes related to ichthyosis and ichthyosiform dermatosis was also performed for the child.
No karyotypic abnormality was found in the child and his parents. High-throughput sequencing has detected in the patient a previously described pathogenic mutation c.919C>T (p.Arg307Trp) and a novel c.856C>T (p.Arg286Trp) mutation in the TGM1 gene. By Sanger sequencing, the child was verified to have carried both mutations. His father was found to be a heterozygous carrier of the c.856C>T (p.Arg286Trp) mutation, while neither mutation was found in the mother.
Congenital ichthyosis associated with the TGM1 gene may show an autosomal recessive inheritance. The collodion condition of the child is probably due to the compound heterozygous mutations of the TGM1 gene.
探究一名维吾尔族中国儿童先天性鱼鳞病样红皮病的遗传病因。
对该患儿及其父母进行G显带染色体核型分析。同时对该患儿进行25个与鱼鳞病及鱼鳞病样皮肤病相关基因的高通量测序。
患儿及其父母的染色体核型均未见异常。高通量测序在患儿中检测到一个先前报道的TGM1基因致病性突变c.919C>T（p.Arg307Trp）以及一个新的c.856C>T（p.Arg286Trp）突变。经Sanger测序验证，患儿携带这两种突变。发现其父亲为c.856C>T（p.Arg286Trp）突变的杂合携带者，而母亲未检测到这两种突变。
与TGM1基因相关的先天性鱼鳞病可能呈常染色体隐性遗传。该患儿的先天性鱼鳞病样红皮病状况可能是由于TGM1基因的复合杂合突变所致。
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