Table 7.

Cold-Induced Sweating Syndrome / Crisponi Syndrome (CISS/CS): CRLF1 Notable Pathogenic Variants

Reference SequencesDNA Nucleotide Change
(Alias 1)		Predicted Protein ChangeComment [Reference]
NM_004750​.5
NP_004741​.1 		c.226T>Gp.Trp76GlyFounder variant in Sardinia [Piras et al 2014] 2
c.676dupA
(c.676_677dupA)		p.Thr226AsnfsTer104Founder variant in Sardinia [Piras et al 2014] 2
c.713dupCp.Pro239AlafsTer91Founder variant in the Roma population (Spain) [Buers et al 2020a]
c.242G>A / c.1121T>Gp.Arg81His / p.Leu374ArgPersons of Israeli ancestry reported as homozygous for both variants [Knappskog et al 2003]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

2.

Together, the variants c.226T>G and c.676dupA are the most common in Sardinia, with a joint carrier frequency of 1.4% [Piras et al 2014].

From: Cold-Induced Sweating Syndrome Including Crisponi Syndrome

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