A novel ABCA12 mutation 3270delT causes harlequin ichthyosis
نویسندگان
چکیده
منابع مشابه
A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with the disease. Exome sequencing data for two affected individuals with ichthyosis from two apparently unrelated consanguineous Pakistani families was analysed. Potential candidate mut...
متن کاملA Mouse Model of Harlequin Ichthyosis Delineates a Key Role for Abca12 in Lipid Homeostasis
Harlequin Ichthyosis (HI) is a severe and often lethal hyperkeratotic skin disease caused by mutations in the ABCA12 transport protein. In keratinocytes, ABCA12 is thought to regulate the transfer of lipids into small intracellular trafficking vesicles known as lamellar bodies. However, the nature and scope of this regulation remains unclear. As part of an original recessive mouse ENU mutagenes...
متن کاملHarlequin ichthyosis (or harlequin fetus)
The pat ient was a female neonate bor n prematurely on 36 weeks of gestation by normal vaginal delivery. During pregnancy, mother had no history of fever, drug use or x-ray exposure. The mother was gravida 2 and had no history of abortion. Her first baby was well. On physical examination, the skin was markedly thickened, hard and hyperkeratotic with deep crevices running transversely and vertic...
متن کاملMutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.
Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar granules (LGs) are a hallmark of HI skin. ABCA12 is a member of the ATP-binding cassette transporter family, and members of the ABCA subfamily are known to have closely related functions as lipid transporters. ABCA3 is involved in lipid secretion via LGs from alveolar type I...
متن کاملA Case Report of Harlequin Ichthyosis
Harlequin ichthyosis is the most severe form of congenital ichthyoses with horny (Keratinized) and chapped thick skin throughout the body. In this disease, disruption in keratinization of epidermis results in the impaired barrier function and susceptibility of the neonate to dehydration and infection. In this article, a term male neonate with harlequin ichthyosis, born of a 29-year-old mother, ...
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ژورنال
عنوان ژورنال: British Journal of Dermatology
سال: 2006
ISSN: 0007-0963
DOI: 10.1111/j.1365-2133.2006.07434.x