In a case report profiling a premature infant who was born with “thick plate-like scales of skin” covering their body, researchers—after performing whole-exome sequencing on a blood sample collected from the infant—identified a novel mutation, c.6353C > G (p.S2118X, Hom) in the ABCA12 gene. The infant had a sibling who was also born prematurely with harlequin ichthyosis and both children ultimately died; after performing whole-genome sequencing on other members of the children’s family, this novel mutation was identified in both parents and a brother and sister. The researchers concluded, “The result of our study also emphasizes the need to diagnose carriers as well as assist in genetic counseling and prenatal screening in the harlequin ichthyosis patient's family.” The case report was published by Khanh Tran et al in Frontiers in Pediatrics.
April 30, 2023