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Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity

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Title: Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity
Authors: Akiyama, Masashi Browse this author
Sakai, Kaori Browse this author
Sugiyama-Nakagiri, Yoriko Browse this author
Yamanaka, Yasuko Browse this author
McMillan, James R Browse this author
Sawamura, Daisuke Browse this author
Niizeki, Hironori Browse this author
Miyagawa, Sachiko Browse this author
Shimizu, Hiroshi Browse this author →KAKEN DB
Keywords: barrier
epidermis
glucosylceramide
lamellar granule
lipid
transporter
Issue Date: Jul-2006
Publisher: Nature Publishing Group
Journal Title: Journal of Investigative Dermatology
Volume: 126
Issue: 7
Start Page: 1518
End Page: 1523
Publisher DOI: 10.1038/sj.jid.5700295
PMID: 16675967
Abstract: Harlequin ichthyosis (HI) is one of the most devastating genodermatoses. Recently, ABCA12 mutations were identified as the cause of HI. A newborn Japanese male demonstrated the typical features of HI. The patient was treated with oral etretinate and his general condition has been good (now aged 1.5 years). This patient with moderate clinical severity was compound heterozygous for a novel de novo missense mutation 1160G>A (S387N) in exon 10 and a maternal deletion mutation 4158_4160delTAC (T1387del) in exon 28 of ABCA12. T1387del was a deletion of a highly conserved threonine residue within the first adenosine 5' triphosphate-binding domain and is thought to seriously affect the function of the ABCA12 protein. Conversely, the residue 387 is located outside the known active sites of ABCA12 and S387N is predicted not to lead to a serious functional deficiency in ABCA12. Electron microscopy revealed abnormal lamellar granules in the granular layer cells and a moderate number of lipid vacuoles in the cornified cells. Disturbed glucosylceramide transport was confirmed in the cultured keratinocytes from the patient. No de novo mutation in ABCA12 has yet been reported either in HI or lamellar ichthyosis. The present case suggested that a de novo ABCA12 mutation might underlie HI.
Rights: Nature Publishing Group, Journal of Investigative Dermatology, vol. 126, issue 7, 2006, pp. 1518-1523
Relation: http://npg.nature.com/npg/servlet/Content?data=xml/02_welcome.xml&style=xml/02_welcome.xsl
Type: article (author version)
URI: http://hdl.handle.net/2115/17076
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 秋山 真志

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