Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis / 中华医学遗传学杂志

ABSTRACT

Objective@#To carry out variant analysis for a fetus suspected with harlequin ichthyosis (HI).@*Methods@#Whole exome sequencing (WES) was employed to detect potential variant in the fetus. Suspected variant was validated by Sanger sequencing.@*Results@#A homozygous missense variant c. 6858delT (p.F2286fs) was detected in the fetus, for which both parents were heterozygous carriers. Pathological analysis confirmed the diagnosis of HI.@*Conclusion@#The c. 6858delT variant of the ABCA12 gene probably underlies the disease in the fetus.