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Case Reports
. 2003 Feb;72(2):375-83.
doi: 10.1086/346120. Epub 2002 Dec 31.

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene

Per M Knappskog  1 , Jacek Majewski, Avi Livneh, Per Torgeir E Nilsen, Jorunn S Bringsli, Jürg Ott, Helge Boman
Affiliations
Case Reports

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene

Per M Knappskog et al. Am J Hum Genet. 2003 Feb.

Abstract

In 1978, Sohar et al. described a strikingly peculiar syndrome in two Israeli sisters. These young women responded to environmental temperatures of 18 degrees C-7 degrees C with profuse sweating on large segments on their back and chest. Both had additional abnormalities, including a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend their elbows, and kyphoscoliosis. We have observed this disorder in two Norwegian brothers. Genome-wide screening in the two families, followed by saturation marker studies and linkage analysis, identified a 1.4-Mb homozygous candidate region on chromosome 19p12. The maximum multipoint LOD score was 4.22. In both families, DNA sequencing of 25 genes within the candidate region identified potentially deleterious CRLF1 sequence variants that were not found in unaffected control individuals. Our findings confirm that the cold-induced sweating syndrome is an autosomal recessive disorder that is probably caused by impaired function of the CRLF1 gene, and they suggest important developmental functions for human CRLF1.

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Figures

Figure 1
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.
Figure 2
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].)
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References

Electronic-Database Information

    1. Center for Medical Genetics, Marshfield Medical Research Foundation, http://www.marshfieldclinic.org/research/genetics/
    1. Cooperative Human Linkage Center, The, http://gai.nci.nih.gov/CHLC/
    1. Digitalarkivet, http://digitalarkivet.uib.no/cgi-win/WebFront.exe?slag=vis&tekst=meldingar
    1. Entrez Genome, http://www.ncbi.nlm.nih.gov/mapview/map_search.cgi? (for NCBI Map Viewer, build 30)
    1. GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for CRLF1 cDNA [accession number NM_004750.2])

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