Article (Scientific journals)
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
Marini, Carla; Hardies, Katia; Pisano, Tiziana et al.
2017In American Journal of Medical Genetics. Part A, 173 (4), p. 1119-1123
Peer Reviewed verified by ORBi
 

Files


Full Text
SLC35A3. AJMG 2016.pdf
Author postprint (691.74 kB)
Request a copy

All documents in ORBilu are protected by a user license.

Send to



Details



Keywords :
Epilepsy; SLC35A3; Genetics
Abstract :
[en] We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozy- gous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability. General examination showed distal arthrog- ryposis predominant in the hands in both siblings and severe left dorso-lumbar convex scoliosis in one. WGS of the siblings-parents quartet identified novel compound heterozygous mutations in SLC35A3 in both children. SLC35A3 encodes the major Golgi uridine diphosphate N-acetylglucosamine transporter. With this study, we add SLC35A3 to the gene list of epilepsies. Neurological symptoms and skeletal abnormalities might result from impaired glycosylation of proteins involved in normal development and function of the central nervous system and skeletal apparatus.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group)
ULHPC - University of Luxembourg: High Performance Computing
Disciplines :
Neurology
Genetics & genetic processes
Author, co-author :
Marini, Carla
Hardies, Katia
Pisano, Tiziana
May, Patrick  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Weckhuysen, Sarah
Cellini, Elena
Suls, Arvid
Mei, Davide
Balling, Rudi ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
De Jonghe, Peter
Helbig, Ingo
Garozzo, Domenico
EuroEPINOMICS consortium AR working group
Guerrini, Renzo
More authors (4 more) Less
External co-authors :
yes
Language :
English
Title :
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
Publication date :
April 2017
Journal title :
American Journal of Medical Genetics. Part A
ISSN :
1552-4833
Publisher :
Wiley Liss, Inc., Hoboken, United States - New Jersey
Volume :
173
Issue :
4
Pages :
1119-1123
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
Available on ORBilu :
since 23 March 2017

Statistics


Number of views
111 (9 by Unilu)
Number of downloads
0 (0 by Unilu)

Scopus citations®
 
16
Scopus citations®
without self-citations
16
OpenCitations
 
11
WoS citations
 
15

Bibliography


Similar publications



Contact ORBilu