Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

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

Angius, Andrea, Uva, Paolo, Oppo, Manuela, Buers, Insa, Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Van Allen, Margot I., Hulait, Gurdip, Aubertin, Gudrun, Muntoni, Francesco, Fry, Andrew E., Annerén, Göran, Stattin, Eva-Lena, Palomares-Bralo, María, Santos-Simarro, Fernando, Cucca, Francesco, Crisponi, Giangiorgio, Rutsch, Frank and Crisponi, Laura 2019. Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses. Clinical Genetics 95 (5) , pp. 607-614. 10.1111/cge.13532
Item availability restricted.

[img] PDF - Accepted Post-Print Version
Restricted to Repository staff only until 12 March 2020 due to copyright restrictions.

Download (1MB)

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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Wiley
ISSN: 0009-9163
Date of First Compliant Deposit: 28 March 2019
Date of Acceptance: 8 March 2019
Last Modified: 28 Jun 2019 04:29
URI: http://orca.cf.ac.uk/id/eprint/121236

Actions (repository staff only)

Edit Item Edit Item

Downloads

Downloads per month over past year

View more statistics