title: Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene.
abstract: Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, with a high mortality rate. Recent advances in neonatal care and the early administration of retinoids have improved the survival rate of HI. Here, we present a case of HI who was successfully treated with early administration of etretinate and showed good prognosis. Next-generation sequencing identified novel mutations of the ATP-binding cassette subfamily A member 12 gene (ABCA12), c.5884+4_+5delAA and c.7239G>A, which caused skipping of exons 39 and 48, respectively. Transcripts with exon 48 skipping, which cause a deletion in the second ATP-binding cassette of ABCA12, were dominantly expressed in the skin. Besides the early administration of etretinate, the differential expression of the mutant protein with limited segmental deletion of ABCA12 may be related to the favorable outcome of our patient.
authors.affiliation: Division of Dermatology, Nishi-Kobe Medical Center, Kobe, Japan.|Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Ken
authors.identifier: http://orcid.org/0000-0002-2468-7535
authors.initials: K
authors.lastname: Washio
authors.affiliation: Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Mayuko
authors.initials: M
authors.lastname: Sumi
authors.affiliation: Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Kaori
authors.initials: K
authors.lastname: Nakata
authors.affiliation: Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Fukunaga
authors.affiliation: Division of Pediatrics, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Keiji
authors.initials: K
authors.lastname: Yamana
authors.affiliation: Division of Pediatrics, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Tsubasa
authors.initials: T
authors.lastname: Koda
authors.affiliation: Division of Pediatrics, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Morioka
authors.affiliation: Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Chikako
authors.initials: C
authors.lastname: Nishigori
authors.affiliation: Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan.
authors.forename: Kiyofumi
authors.initials: K
authors.lastname: Yamanishi
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D017398:Alternative Splicing / Q000235:genetics; D001706:Biopsy; D005050:Etretinate / Q000627:therapeutic use; D005091:Exons / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000188:drug therapy* / Q000235:genetics*; D007231:Infant, Newborn; D007641:Keratolytic Agents / Q000627:therapeutic use*; D008297:Male; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics; D012867:Skin / Q000473:pathology
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters; D007641:Keratolytic Agents; D005050:Etretinate
keywords: alternative splicing; autosomal recessive congenital ichthyosis; etretinate; harlequin ichthyosis; human ABCA12 protein