Crisponi syndrome: A new case with additional features and new mutation in <i>CRLF1</i>

Okur, İlyas; Tümer, Leyla; Crisponi, Laura; Eminoğlu, Fatma Tuba; Chiappe, Francesca; Cinaz, Peyami; Yenicesu, İdil; Hasanoğlu, Alev

doi:10.1002/ajmg.a.32531

Cited by 15 publications

(19 citation statements)

References 6 publications

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“…Molecular analysis of the CRLF1 gene in our patient showed a homozygous nonsense mutation (c.829C>T, p.R277X). The same mutation was previously once reported, also in a Turkish family but originated from another region of Turkey [Okur et al, 2008].…”

Section: Introductionsupporting

confidence: 65%

“…All patients share typical clinical findings described before. The nonsense mutation (c.829C>T, p.R277X) found in our patient was previously reported by Okur et al [2008] in a Turkish family, originating from Eastern Turkey. The patient described by Okur et al presents all typical features of CS/CISS1 but also incomplete cleft palate, velopharyngeal insufficiency and thin corpus callosum, which were not present in our patient.…”

Section: Discussionmentioning

confidence: 56%

“…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].…”

Section: Discussionmentioning

confidence: 95%

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

Moortgat

Benoît

Deprez

et al. 2014

European Journal of Medical Genetics

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Section: Introductionsupporting

confidence: 65%

Section: Discussionmentioning

confidence: 56%

Section: Discussionmentioning

confidence: 95%

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

Moortgat

Benoît

Deprez

et al. 2014

European Journal of Medical Genetics

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“…1 Further patients have been reported later. [2][3][4][5][6][7][8] The syndrome usually manifests at birth, when patients present with hyperthermia and abnormal paroxysmal contractions of the facial and oropharyngeal muscles, as well as feeding and respiratory difficulties often requiring the use of nasogastric feeding. Physical dysmorphisms such as a large face, broad nose and camptodactyly have been described in most of the patients.…”

Section: Introductionmentioning

confidence: 99%

“…Physical dysmorphisms such as a large face, broad nose and camptodactyly have been described in most of the patients. [3][4][5]7,8 Hyperthermia is frequently associated with death within the first months of life. Feeding difficulties and hyperthermia often resolve after infancy in the rare surviving patients, who then develop scoliosis and sometimes psychomotor retardation.…”

Section: Introductionmentioning

confidence: 99%

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

et al. 2011

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Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) are disorders caused by mutations in CRLF1. The two syndromes share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia, associated with death in most cases in the first years of life. To evaluate a potential genotype/phenotype correlation and whether CS and CISS1 represent two allelic diseases or manifestations at different ages of the same disorder, we carried out a detailed clinical analysis of 19 patients carrying mutations in CRLF1. We studied the functional significance of the mutations found in CRLF1, providing evidence that phenotypic severity of the two disorders mainly depends on altered kinetics of secretion of the mutated CRLF1 protein. On the basis of these findings, we believe that the two syndromes, CS and CISS1, represent manifestations of the same disorder, with different degrees of severity. We suggest renaming the two genetic entities CS and CISS1 with the broader term of Sohar-Crisponi syndrome.

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Cold‐induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation

Yamazaki

Kosho

Kawachi

et al. 2010

American J of Med Genetics Pt A

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Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder caused by mutations in CRLF1 (cytokine receptor-like factor 1), characterized by profuse sweating in cold environmental temperature and craniofacial and skeletal features. Mutations in CRLF1 also cause Crisponi syndrome (CS), characterized by neonatal-onset paroxysmal muscular contractions as well as craniofacial and skeletal manifestations and abnormal functions of the autonomic nerve system. To date, it is an unresolved problem whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions or with different presentations depending on the patients' age at diagnosis. We report on a 30-year-old Japanese woman with CISS and homozygous out-of-frame 23-base deletion of CRLF1. In infancy, she did not show paroxysmal muscular contractions, but showed feeding difficulty, hyperthermia, and facial characteristics including thick and arched eyebrows, a short nose with anteverted nostrils, full cheeks, an inverted upper lip, and a small mouth, resembling those observed in CS. Profuse sweating was noticed at 3 years of age. Cold-induced sweating was recognized in her elementary school days. In adolescence to adulthood, she showed a Marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender face with poor expression, a distinctive nose with hypoplastic nares, malar hypoplasia, prognathism, and a small mouth. This is the first report of detailed longitudinal observation of a patient with CRLF1 abnormalities, compatible with the notion that CISS and CS may be a single clinical entity.

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Crisponi syndrome: A new case with additional features and new mutation in CRLF1

Cited by 15 publications

References 6 publications

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

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

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

Cold‐induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation

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