Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E

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Cold-Induced Sweating Syndrome Is Caused by Mutations in the CRLF1 Gene Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E. Nilsen, Jorunn S. Bringsli, Jürg Ott, Helge Boman The American Journal of Human Genetics Volume 72, Issue 2, Pages 375-383 (February 2003) DOI: 10.1086/346120 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of Norwegian (A) and Israeli (B) families. Blackened symbols indicate patients with CISS. In the Norwegian family, the first common ancestor was found nine generations back (arrow). Observed marker homozygosity is shown in boldface. The American Journal of Human Genetics 2003 72, 375-383DOI: (10.1086/346120) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 Mutation analysis of CRLF1 in Norwegian and Israeli families. Wt = wild type. A, DNA sequence of CRLF1 exon 5, showing the 2-bp deletion (c.844_845delGT). B, DNA sequence of CRLF1 exon 2, showing the A→G substitution in the second position of codon 81, predicting a change from arginine to histidine (R81H). C, DNA sequence of CRLF1 exon 7, showing the T→G substitution in the second position of codon 374, substituting arginine for leucine (L374R). The sites of mutational changes are indicated by asterisks (*). (Numbering of CRLF1 cDNA here is based on GenBank [accession number NM_004750.2].) The American Journal of Human Genetics 2003 72, 375-383DOI: (10.1086/346120) Copyright © 2003 The American Society of Human Genetics Terms and Conditions