Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families

Kolkiran, Abdulkerim; Demir, Gizem Ürel; Şimşek‐Kiper, Pelin Özlem; Ütine, Gülen Eda

doi:10.1016/j.ejmg.2021.104229

Cited by 1 publication

(10 citation statements)

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“…4,28 Except c.713dupC variant, all CRLF1 variants reported herein identified in patients originated from Eastern Turkey. 8,16,26,28 In our cohort of Turkish descent, causative variants were concentrated in only two exons of the CRLF1 gene. Of note, 95% of (n = 18) the changes were clustered at exon 5, followed by exon 2 (5%).…”

Section: Other Featuresmentioning

confidence: 78%

“…The latter likely occurs due to early tooth decay and loss of permanent teeth, which is related to both periosteal expression and action of the mutant CRLF1 protein complex, as well as inadequate oral salivary cycle, defective swallowing and chewing (Figure 3A). Short philtrum was rarely mentioned in the previous reports, 16,30 yet observable from the clinical photographs of the patients in both groups who survived infancy. 3,6,11,12,18,19,31 We suppose an unmentioned feature is kyphoscoliosis in KLHL7 cases, this non-ambulatory and severely retarded patients will probably develop kyphosis and/or scoliosis in older ages a feature not observed in our young cases.…”

Section: Other Featuresmentioning

confidence: 79%

“…28,29 All patients harboring the c.776C>A variant, including the two unrelated patients reported herein, were also of Turkish origin. 16,28 One of the novel changes we report is c.713delC (Table 1) (Figure 2).…”

Section: Other Featuresmentioning

confidence: 83%

“…The remaining variants in our CRLF1 cohort were reported to have severe phenotypes. 16,28,29 Today, the underlying cause of the same variant presenting inter and intra-family variability in clinical findings cannot be fully explained. It is especially applicable for the p. Pro238ArgfsTer6 variant, which is very common in the Turkish population and our series.…”

Section: Other Featuresmentioning

confidence: 99%

“…14 To date, only 44 variants in CRLF1 were revealed in 88 patients in the literature, 26 of whom were from Turkey. 8,[15][16][17] Regarding the variants of KLHL7, only 13 have been identified in 21 patients so far, two of whom participated in the present study. [11][12][13][18][19][20][21] In this study, we present the molecular basis of CS/CISS-like phenotypes in 23 clinically well-characterized patients, combining data gathered from two centers in Turkey.…”

mentioning

confidence: 99%

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

et al. 2022

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Crisponi/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/CISSlike 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.

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