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Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3–34.13

¹ Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden
² Dermatological DNA Laboratory, Department of Dermatology, Rikshospitalet University Hospital, and Institute of Forensic Medicine, University of Oslo, Oslo, Norway
³ Department of Medical Science, Uppsala University Hospital, Uppsala, Sweden

Correspondence to:
Professor N Dahl
Department of Genetics and Pathology, Rudbeck Laboratory, SE-751 85 Uppsala, Sweden; niklas.dahl@genpat.uu.se] Received 18 July 2003
27 October 2003

The first 150 words of the full text of this article appear below.

Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of inherited disorders of keratinisation, with an estimated incidence of one per 200 000 newborns.¹ In Scandinavia, the prevalence is closer to one in 50 000.^2,3 By electron microscopy, ARCI can be classified into four subgroups—ichthyosis congenita I–IV—and one so far undefined group. Six loci have been associated with ARCI: on chromosomes 2q34 (LI2 (MIM 601277)), 3p21 (NCIE2 (MIM 604780)), 14q11.2 (LI1 (MIM 242300) and NCIE1 (MIM 242100)), 17p13.1 (LI5 (MIM 606545)), 19p12–q12 (LI3 (MIM 190195)), and 19p13.1–p13.2 (NNCI (MIM 604781)).^4–9

Genes that correspond to four of these have been identified: the transglutaminase 1 gene (TGM1 (MIM 190195)) on chromosome 14q11, the comparative gene identification 58 (CGI-58 (MIM 604780)) on chromosome 3p21, two genes from the lipoxygenase (LOX) family—lipoxygenase-3 (ALOX3) and 12(R)-lipoxygenase (ALOX12B (MIM 603741))—on chromosome 17p13.1, and, most recently, the adenosine triphosphate . . . [Full text of this article]

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