Pharmacogenomics and Personalized Medicine (Jun 2022)
Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report
Abstract
Jing Zeng, Baihui Shan, Lu Guo, Sha Lv, Fuqiu Li Department of Dermatology, the Second Hospital of Jilin University, Changchun, People’s Republic of ChinaCorrespondence: Fuqiu Li, Department of Dermatology, the Second Hospital of Jilin University, No. 218 Nanguan District, Changchun, CN 130041, People’s Republic of China, Tel +8613039123758, Fax +86-0431-81136888, Email [email protected]: We aimed to detect the pathogenic gene mutations in a patient with lamellar ichthyosis (LI). The genomic DNA of the patient was examined using high-throughput whole-exome sequencing to identify the causative mutations. Compound heterozygous mutations of c.1187G>T (p.Arg396Leu) and c.607C>T (p.Gln203*) were found in the transglutaminase-1 gene (TGM1) on chromosome 14 of the proband. The mutations stated above have been reported to impair the function of TGM1 protein and to be pathogenic. Our data suggest that the proband carried compound heterozygous mutations of c.1187G>T(p.Arg396Leu) and c.607C>T(p.Gln203*) in TGM1, which were in the trans position and the cause of his disease. We also found some dermoscopic in this patient which may be specific in LI.Keywords: autosomal-recessive congenital ichthyosis, TGM1, lamellar ichthyosis, whole-exome sequencing
