A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation

Moortgat, Stéphanie; Benoît, Valérie; Deprez, Marie; Charon, Anne; Maystadt, Isabelle

doi:10.1016/j.ejmg.2014.02.003

Cited by 3 publications

(2 citation statements)

References 17 publications

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“…Most CS/CISS1 individuals originate from Europe, especially from the Mediterranean region [Italy mainland (4) and Sardinia (12 + 15 not tested for variants in CRLF1 ), Turkey (23), Spain (8), Lybia (3) and France (2)]. Others are from the Saudi Arabia (13), India, Pakistan, Japan, Australia, North or Central America . Although most of the disease‐associated CRLF1 variants are private and found only in single families, some variants occur frequently in distinct CS/CISS1 individuals from a specific geographical region (eg, c.226T>G and c.676_677dupA in Sardinia, c.708_709delinsT in Turkey, c.983dupG in Saudi Arabia and c.713dupC in Spain, Turkey, Roma population).…”

Section: Prevalence and Geographical Distribution For Cs/cissmentioning

confidence: 99%

“…Up to now, 37 disease causing CRLF1 variants in 73 patients from 53 families have been reported in the medical literature. 4,[7][8][9][10]12,[17][18][19][20][21][22][23][24][25][26][27][28][29][30] In total, 88 CS/CISS1 individuals were identified, although 15 Sardinian CS/CISS1 individuals were not genetically analyzed because they died before CRLF1 had been found to be associated with the disease. 1 Table 1, we report here three novel variants in 3 of…”

Section: Molecular Diagnosis Of Cs/cissmentioning

confidence: 99%

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Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts

et al. 2019

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Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory difficulties often leading to sudden death in the neonatal period. The affected individuals who survived the first critical years of life, develop cold-induced sweating and scoliosis in early childhood. The disease is caused by variants in the CRLF1 or in the CLCF1

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Section: Prevalence and Geographical Distribution For Cs/cissmentioning

confidence: 99%

Section: Molecular Diagnosis Of Cs/cissmentioning

confidence: 99%

Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts

et al. 2019

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Liuwei Dihuang Pill (六味地黄丸) Treats Postmenopausal Osteoporosis with Shen (Kidney) Yin Deficiency via Janus Kinase/Signal Transducer and Activator of Transcription Signal Pathway by Up-regulating Cardiotrophin-Like Cytokine Factor 1 Expression

Xie

Chen

et al. 2016

Chin. J. Integr. Med.

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A new case series of Crisponi syndrome in a Turkish family and review of the literature

Bayraktar-Tanyeri

Hepokur

Bayraktar

et al. 2017

Clinical Dysmorphology

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Crisponi syndrome/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder with a complex phenotype, reported in the neonatal period for CS and in the evolutive one for CISS. The syndrome usually manifests at birth. The aim of this study was to report on three new patients with CS and review the Turkish patients. We report here on three patients from two related families harboring a homozygous mutation in the cytokine receptor-like factor-1 (CRLF1) gene. DNA samples of the three patients and their parents were subjected to a mutational analysis of the CRLF1 gene at the Institute of Biomedical and Genetic Research - National Research Council, Cagliari (Italy). Direct sequencing of the nine coding exons and surrounding intronic regions of CRLF1 was performed using specific primers. All three patients were found to be homozygotes for the mutation c.708_709delinsT, which leads to a frameshift in the second fibronectin type III domain (p.Pro238Argfs*6). CS should be considered in the differential diagnosis of newborns with muscle contractions, feeding and swallowing difficulties, dysmorphic facial findings, camptodactyly, and hypertermia. Neonatologists must be aware of this syndrome that, although very rare worldwide, has a higher prevalence in Turkey.

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A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation

Cited by 3 publications

References 17 publications

Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts

Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts

Liuwei Dihuang Pill (六味地黄丸) Treats Postmenopausal Osteoporosis with Shen (Kidney) Yin Deficiency via Janus Kinase/Signal Transducer and Activator of Transcription Signal Pathway by Up-regulating Cardiotrophin-Like Cytokine Factor 1 Expression

A new case series of Crisponi syndrome in a Turkish family and review of the literature

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