Abstract:
:Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 (CS/CISS1), CLCF1 (CS/CISS2) and KLHL7 (CS/CISS-like). Here, a whole exome sequencing approach in individuals with CS/CISS-like phenotype with unknown molecular defect revealed unpredicted alternative diagnoses. This approach identified putative pathogenic variations in NALCN, MAGEL2 and SCN2A. They were already found implicated in the pathogenesis of other syndromes, respectively the congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome, the Schaaf-Yang syndrome, and the early infantile epileptic encephalopathy-11 syndrome. These results suggest a high neonatal phenotypic overlap among these disorders and will be very helpful for clinicians. Genetic analysis of these genes should be considered for those cases with a suspected CS/CISS during neonatal period who were tested as mutation negative in the known CS/CISS genes, because an expedited and corrected diagnosis can improve patient management and can provide a specific clinical follow-up.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Angius A,Uva P,Oppo M,Buers I,Persico I,Onano S,Cuccuru G,Van Allen MI,Hulait G,Aubertin G,Muntoni F,Fry AE,Annerén G,Stattin EL,Palomares-Bralo M,Santos-Simarro F,Cucca F,Crisponi G,Rutsch F,Crisponi Ldoi
10.1111/cge.13532subject
Has Abstractpub_date
2019-05-01 00:00:00pages
607-614issue
5eissn
0009-9163issn
1399-0004journal_volume
95pub_type
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