NM_004750.5(CRLF1):c.708_709delinsT (p.Pro238fs) AND Cold-induced sweating syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2007
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000006066.4

Allele description [Variation Report for NM_004750.5(CRLF1):c.708_709delinsT (p.Pro238fs)]

NM_004750.5(CRLF1):c.708_709delinsT (p.Pro238fs)

Gene:

CRLF1:cytokine receptor like factor 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

19p13.11

Genomic location:

Preferred name:

NM_004750.5(CRLF1):c.708_709delinsT (p.Pro238fs)

HGVS:

NC_000019.10:g.18597038_18597039delinsA
NG_013370.1:g.14812_14813delinsT
NG_057411.1:g.420_421delinsA
NM_004750.5:c.708_709delinsTMANE SELECT
NP_004741.1:p.Pro238fs
NC_000019.9:g.18707848_18707849delinsA

Protein change:

P238fs

Links:

OMIM: 604237.0008; dbSNP: rs2145329741

NCBI 1000 Genomes Browser:

rs2145329741

Molecular consequence:

NM_004750.5:c.708_709delinsT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cold-induced sweating syndrome 1 (CISS1)
Synonyms:: Crisponi syndrome; Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death; CRISPONI/COLD-INDUCED SWEATING SYNDROME 1
Identifiers:: MONDO: MONDO:0010091; MedGen: C1848947; Orphanet: 1545; Orphanet: 157820; OMIM: 272430

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026248	OMIM	no assertion criteria provided	Pathogenic (May 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026248

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2007)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.

Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F.

Am J Hum Genet. 2007 May;80(5):971-81. Epub 2007 Mar 30.

PubMed [citation]

PMID:: 17436252
PMCID:: PMC1852730

Details of each submission

From OMIM, SCV000026248.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 3 children from 2 consanguineous Turkish families, Crisponi et al. (2007) found that Crisponi/cold-induced sweating syndrome (CISS1; 272430) was caused by homozygosity for an indel mutation in exon 5 of the CRLF1 gene: 708_709delCCinsT. The mutation leads to a frameshift in the second fibronectin type II domain (Pro238ArgfsTer6). The fathers of the affected probands from these 2 families originated from the same town in eastern Turkey.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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