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Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.
Akiyama, Masashi; Sakai, Kaori; Sato, Toshihiro; McMillan, James R; Goto, Maki; Sawamura, Daisuke; Shimizu, Hiroshi.
  • Akiyama M; Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan. akiyama@med.hokudai.ac.jp
Dermatology ; 215(2): 155-9, 2007.
Article en En | MEDLINE | ID: mdl-17684380
ABSTRACT
Recently, it has been reported that several harlequin ichthyosis (HI) patients survive the neonatal period and their condition subsequently improves. Here we describe a 2-year-old Japanese boy who exhibited typical clinical features of HI at birth. He survived beyond the neonatal period after oral retinoid treatment and, at the age of 2 years, showed moderately thick, lamellar scales and erythroderma over his whole body. The patient is a compound heterozygote for 2 ABCA12 mutations, a paternal deletion mutation c.2021_2022del (p.Lys674ArgfsX63) and a novel maternal nonsense mutation c.7444C --> T (p.Arg2482X). Electron microscopic observation of a skin biopsy specimen from the perinatal period revealed epidermal ultrastructural features consistent with HI. Immunofluorescence labeling using antiserum against a C-terminal ABCA12 epitope showed loss of expression in the patient's epidermis. The present patient demonstrates that rapid diagnosis of HI by ABCA12 expression analysis and mutation detection, and early commencement of systemic retinoid therapy are crucial to significantly improving an HI patient's prognosis.
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Banco de datos: MEDLINE Asunto principal: Eliminación de Secuencia / Ictiosis Lamelar / Codón sin Sentido / Transportadoras de Casetes de Unión a ATP Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Año: 2007 Tipo del documento: Article
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Banco de datos: MEDLINE Asunto principal: Eliminación de Secuencia / Ictiosis Lamelar / Codón sin Sentido / Transportadoras de Casetes de Unión a ATP Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Año: 2007 Tipo del documento: Article