Document Detail

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.
MedLine Citation:
PMID:  12509788     Owner:  NLM     Status:  MEDLINE    
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.
Per M Knappskog; Jacek Majewski; Avi Livneh; Per Torgeir E Nilsen; Jorunn S Bringsli; Jürg Ott; Helge Boman
Related Documents :
12908008 - Genome-wide search for strabismus susceptibility loci.
7825578 - The gene for spinal cerebellar ataxia 3 (sca3) is located in a region of approximately ...
9653658 - A gene for recessive nonsyndromic sensorineural deafness (dfnb18) maps to the chromosom...
17224468 - Genome-wide linkage mapping for valve calcification susceptibility loci in hypertensive...
591928 - Trisomy for the short arm of chromosome no. 10.
21082658 - Clinical report of microphthalmia and optic nerve coloboma associated with a de novo mi...
Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Research Support, U.S. Gov't, P.H.S.     Date:  2002-12-31
Journal Detail:
Title:  American journal of human genetics     Volume:  72     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2003 Feb 
Date Detail:
Created Date:  2003-01-23     Completed Date:  2003-03-18     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  375-83     Citation Subset:  IM    
Center for Medical Genetics and Molecular Medicine, University of Bergen, Norway.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosomes, Human, Pair 19
Cold Temperature / adverse effects*
Genetic Markers
Genetic Testing
Genetic Variation
Linkage (Genetics)
Lod Score
Receptors, Cytokine / genetics*
Sweating / genetics*
Grant Support
Reg. No./Substance:
0/Genetic Markers; 0/Receptors, Cytokine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Biosecurity for animal facilities and associated laboratories.
Next Document:  Identification of I kappa BL as the second major histocompatibility complex-linked susceptibility lo...