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

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• 作者：Stephanie Moortgat^a ; ^{stephanie.moortgat@ipg.be" class="auth_mail} ; Valerie Benoit^a ; Marie Deprez^a ; ^b ; Anne Charon^c ; Isabelle Maystadt^a
• 关键词：Crisponi syndrome ; Cold-induced sweating syndrome type 1 ; CRLF1 gene ; Muscle contractions ; Hyperthermia ; Facial dysmorphism ; Camptodactyly
• 刊名：European Journal of Medical Genetics
• 出版年：April 2014
• 年：2014
• 卷：57
• 期：5
• 页码：212-215
• 全文大小：773 K

文摘

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by profuse sweating at cold environmental temperatures, facial dysmorphism and skeletal features. The infantile presentation of CISS, referred to as Crisponi syndrome (CS), is characterized by facial muscular contractures in response to slight tactile stimuli or during crying, by life-threatening feeding difficulties caused by suck and swallow inabilities, and by intermittent hyperthermia. High febrile crises can lead to death within the first months of life. In preadolescence, surviving patients develop kyphoscoliosis and abnormal sweating.

CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 in more than 90 percent of patients (CISS1) and by mutations in CLCF1 in the remaining patients (CISS2). It is now well demonstrated that all patients with an infantile-onset CS will develop CISS, confirming that CS and CISS are not “allelic disorders” but the same clinical entity described at different ages of affected patients.

Here we report on a Turkish patient with a phenotype consistent with CS/CISS1 and a nonsense homozygous mutation (c.829C>T, p.R277X) in the CRLF1 gene. This mutation has already been reported in another Turkish patient with CS/CISS1.