© 2004 BMJ Publishing Group Ltd
LETTER TO JMG
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.334.13
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:
Correspondence to:
Professor N Dahl
Department of Genetics and Pathology, Rudbeck Laboratory, SE-751 85 Uppsala, Sweden; niklas.dahl@genpat.uu.se
Accepted 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 subgroupsichthyosis congenita IIVand 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)), 19p12q12 (LI3 (MIM 190195)), and 19p13.1p13.2 (NNCI (MIM 604781)).49
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) familylipoxygenase-3 (ALOX3) and 12(R)-lipoxygenase (ALOX12B (MIM 603741))on chromosome 17p13.1, and, most recently, the adenosine triphosphate
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