Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.

摘要

The autosomal recessive skin condition harlequin ichthyosis (HI) is the most severe and often lethal form of recessive congenital ichthyosis. Infants born with HI have hard, thick skin covering most of their body. This skin abnormality leads to ectropion (eyelids) and eclabion (lips) pins malformations of the fingers and toes, as shown in Figure 1. Impaired barrier function leads to increased water loss, poor temperature regulation and susceptibility to infection. The gene responsible for HI has recently been identified as ABCA12, a member of the adenosine triphosphate-binding cassette (ABC) superfamily of active transporters. There is evidence to suggest that the ABCA12 protein is involved in the transportation of key lipids to the stratum eorneum of the epidermis. Previously, prenatal diagnosis of HI has been performed by nonmolecular procedures such as fetoscopy and ulurasonographically guided fetal skin biopsies to identify abnormal ultrastructure. The implementation of DNA diagnosis for HI has now facilitated early and robust prenatal testing for HI.10 (authors' unpublished studies) Preimplantation genetic testing is also now possible.