Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey

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dc.authorid0000-0001-6930-7148
dc.contributor.authorYılmaz Güleç, Elif
dc.contributor.authorTurgut, Gözde Tutku
dc.contributor.authorGezdirici, Alper
dc.contributor.authorKaraman, Volkan
dc.contributor.authorÖztürk, Fatma Nihal
dc.contributor.authorAvcı, Şahin
dc.contributor.authorKalaycı, Tuğba
dc.contributor.authorŞentürk, Leyli
dc.contributor.authorAyaz, Akif
dc.contributor.authorKayserili, Hülya
dc.contributor.authorUyguner, Zehra Oya
dc.contributor.authorAltunoğlu, Umut
dc.date.accessioned2022-11-16T08:42:56Z
dc.date.available2022-11-16T08:42:56Z
dc.date.issued2022
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractCrisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired feeding ability, and respiratory distress. The classic CS/CISS is mainly associated with CRLF1 and, rarely, CLCF1. PERCHING syndrome, previously known as CS/CISS type-3 associated with biallelic pathogenic variants in KLHL7, is notable for its few overlapping manifestations. This study presents genotype-phenotype relationships in CS/CISS-like spectrum associated with CRLF1 and KLHL7. Clinical findings of 19 patients from 14 families and four patients from three families were found in association with six different CRLF1 and three different KLHL7 variants, respectively. c.167T>C and c.713delC of the CRLF1 gene and the c.642G>C of the KLHL7 were novel. The c.708_709delCCinsT allele of CRLF1 was identified in 10 families from the Mardin province of Turkey, underlining that an ancestral haplotype has become widespread. CRLF1-associated phenotypes revealed novel manifestations such as prenatal oligohydramnios, benign external hydrocephalus, previously unreported dysmorphic features emerging with advancing age, severe palmoplantar keratoderma and facial erythema, hypopigmented macules and streaks, and recurrent cardiac arrests. KLHL7 variants presented with glabellar nevus flammeus, blepharophimosis, microcephaly, thin corpus callosum, and cleft palate. Abnormalities of sweating, observed in one patient reported herein, is known to be very rare among KLHL7-related phenotypes.
dc.identifier.citationYılmaz Güleç, E., Turgut, G. T., Gezdirici, A., Karaman, V., Öztürk, F. N., Avcı, Ş. ... Altunoğlu, U. (2022). Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey. Clinical Genetics, 102(3), 201-217. https://doi.org/10.1111/cge.14177
dc.identifier.doi10.1111/cge.14177
dc.identifier.endpage217
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.issue3
dc.identifier.pmid35699517
dc.identifier.scopus2-s2.0-85133895570
dc.identifier.scopusqualityQ1
dc.identifier.startpage201
dc.identifier.urihttps://doi.org/10.1111/cge.14177
dc.identifier.urihttps://hdl.handle.net/20.500.12511/9971
dc.identifier.volume102
dc.identifier.wos000823094100001en_US
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAyaz, Akif
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofClinical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectArthrogryposis
dc.subjectCold-Induced Sweating
dc.subjectCrisponi/Cold-Induced Sweating Syndrome (CS/CISS)
dc.subjectCRLF1
dc.subjectDysphagia
dc.subjectEpisodic Hyperthermia
dc.subjectKLHL7
dc.titleClinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
dc.typeArticle

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