Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses.

Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses. Clin Genet. 2019 Mar 12;: Authors: 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 L 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), in CLCF1 (CS/CISS2) and in 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 (CLIFAHDD), the Schaaf-Yang syndrome (SHFYNG), and the early infantile epileptic encephalopathy-11 syndrome (EIEE11). These results suggest a high neonatal phenotypic overlap among these disorders and will be very helpful for cl...
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research