Novel compound heterozygous variants in TGM1 with the lethal neonatal collodion baby and autosomal recessive congenital ichthyosis.

Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous group of congenital disorders characterized by aberrant skin cornification and diffuse skin scaling. Most neonates with ARCI are collodion babies. Herein, we recruited a Chinese family with one patient, who died as a collodion baby one month after birth. Heterozygous mutations of c.424 C > T and c.1385 C > T in the TGM1 were detected in the proband by Chip capture high-throughput sequencing, and the two alleles were inherited from the mother and father, respectively. While the mother was pregnant with another child, her chorionic villus and amniotic fluid were used for prenatal diagnosis to detect potential mutated genes. It was found that the fetus only carried the c.424 C > T mutation of the TGM1 gene thus, the pregnancy continued and a healthy, full-term boy was born. Our research broadens the spectrum of ARCI-related pathogenic TGM1 mutations and performs prenatal genetic testing to avoid terminating unnecessary pregnancies.