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Identification of mutations in SDR 9C7 in six families with autosomal recessive congenital ichthyosis
Author(s) -
Hotz A.,
Fagerberg C.,
Vahlquist A.,
Bygum A.,
Törmä H.,
Rauschendorf M.A.,
Zhang H.,
Heinz L.,
Bourrat E.,
Hausser I.,
Vestergaard V.,
Dragomir A.,
Zimmer A.D.,
Fischer J.
Publication year - 2018
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.15994
Subject(s) - congenital ichthyosis , ichthyosis , genetics , exome sequencing , medicine , mutation , dermatology , biology , gene
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SULT2B1.1-6 Furthermore, seven patients from a large consanguineous family were described as ARCI due to a homozygous mutation in LIPN.7 However, the first symptoms appeared only from the age of 5 years and the criterion of a congenital form of ichthyosis is not fulfilled. In this study we report the clinical and molecular findings of seven ARCI patients who carried five previously unreported mutations in SDR9C7. This article is protected by copyright. All rights reserved.