Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome

Abstract

Crisponi syndrome is a recently described rare autosomal recessive disorder. The main clinical features of the syndrome are neonatal onset of episodic contractions of the facial muscles with trismus and abundant salivation resembling a tetanic spasm. Herein, we report a case of 3-day-old male neonate presenting with trismus, abundant salivation, feeding difficulties, camptodactyly, and hyperthermia, which are consistent with the diagnostic criteria of Crisponi syndrome. The parents of the patient were consanguineous, supporting autosomal recessive inheritance. Molecular analysis revealed a homozygous mutation in cytokine receptor-like factor-1 gene in the patient.

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

“…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).…”

“…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…”

Expanding the Mutational Spectrum ofCRLF1in Crisponi/CISS1 Syndrome

“…To date, 24 mutations have already been reported in literature as associated with CS/CISS1 [Knappskog et al., ; Hahn et al., ; Crisponi et al., ; Dagoneau et al., ; Okur et al., ; Thomas et al., ; Di Leo et al., ; Hahn et al., ; Yamazaki et al., ; Cosar et al., ; Hahn and Boman, ; Herholz et al., ; Benoit et al., ; González Fernández et al., ; Hakan et al., ; Tüysüz et al., ; Uzunalic et al., ], whereas here we report for the first time additional 11 novel mutations (Tables and ). The study protocol was approved by the Münster University Hospital Ethical Committee in Germany and all subjects involved in this study gave informed written consent.…”

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

“…Mutations were further identified in several typical CS/ CISS1 patients [Cosar et al, 2011;Dessi et al, 2012;Hahn et al, 2010;Hakan et al, 2012;Herholz et al, 2011;Okur et al, 2008;Thomas et al, 2008;Uzunalic et al, 2013;Yamazaki et al, 2010]. Patients with CS/CISS1 are originating from several countries, mostly from Sardinia or Turkey, and recently a Japanese patient with a mutation in CRLF1 was reported [Yamazaki et al, 2010].…”