A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.
Eur J Med Genet
; 57(5): 212-5, 2014 Apr.
Article
em En
| MEDLINE
| ID: mdl-24613578
ABSTRACT
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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trismo
/
Deformidades Congênitas da Mão
/
Receptores de Citocinas
/
Febre
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Eur J Med Genet
Ano de publicação:
2014
Tipo de documento:
Article