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

• Published in: Journal of medical genetics Vol. 41; no. 3; pp. 208 - 212
• Main Authors: Klar, J, Gedde-Dahl, T, Larsson, M, Pigg, M, Carlsson, B, Tentler, D, Vahlquist, A, Dahl, N
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.03.2004; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Biological and medical sciences; Chromosome Mapping; Chromosomes; Chromosomes, Human, Pair 9 - genetics; Colleges & universities; Congenital diseases; Dermatology; Dyskeratosis; Female; Genes, Recessive - genetics; Genetic Heterogeneity; Genetic Markers - genetics; Genetic Predisposition to Disease - genetics; Haplotypes; Haplotypes - genetics; Humans; Ichthyosis - genetics; Infant, Newborn; Infant, Premature, Diseases - genetics; Letter to JMG; Lod Score; Male; Medical sciences; Microscopy; Mutation; Pedigree; Proteins; Recombination, Genetic - genetics; Siblings; Syndrome; Scandinavia; Dyskeratosis; Chromosome; Skin disease; Locus; Hyperkeratosis; Ichthyosis
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2003.012567

Of these 16 genes, only eight has a known function, including the LIM homeobox transcription factor 1 β (LMX1B (MIM 602575)), zinc finger protein 297B (ZNF297B), Ral guanine nucleotide exchange factor RalGPS1A (RALGPS1A), angiopoietin like 2 (ANGPTL2 (MIM 605001)), solute carrier family 2 (facilitated glucose transporter) member 8 (SLC2A8 (MIM 605245)), zinc finger protein 79 (pT7) (ZNF79 (MIM 194552)), ribosomal protein L12 (RPL12 (MIM 180475)), and syntaxin binding protein 1 (STXBP1 (MIM 602926)). Information on electronic databases Accession numbers and URLs for data in this article are as follows: decode ( http://www.decodegenetics.com/ ) Ensembl ( http://www.ensembl.org/ ) GenBank ( http://www.ncbi.nlm.nih.gov/genbank ) Online Mendelian Inheritance in Man (OMIM) ( http://www.ncbi.nlm.nih.gov/omim/ ) (for ABCA12A (MIM 607800), ALOX12B (MIM 603741), ANGPTL2 (MIM 605001), CGI-58 (MIM 604780), LI1 (MIM 242300), LI2 (MIM 601277), LI3 (MIM 190195), LI5 (MIM 606545), LMX1B (MIM 602575), NCIE1 (MIM 242100), NCIE2 (MIM 604780), NNCI (MIM 604781), RPL12 (MIM 180475), SLC2A8 (MIM 605245), STXBP1 (MIM 602926), TGM1 (MIM 190195), ZNF79 (MIM 194552) To further restrict the candidate region, samples from additional families affected by IPS are important for the identification of critical recombination events and common haplotypes.