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Recessive mutations inSLC35A3cause early onset epileptic encephalopathy with skeletal defects
- Source :
- American Journal of Medical Genetics Part A. 173:1119-1123
- Publication Year :
- 2017
- Publisher :
- Wiley, 2017.
-
Abstract
- 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 heterozygous 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 arthrogryposis 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.
- Subjects :
- 0301 basic medicine
Arthrogryposis
Microcephaly
Pathology
medicine.medical_specialty
business.industry
Central nervous system
Heterozygote advantage
Scoliosis
medicine.disease
Compound heterozygosity
03 medical and health sciences
Epilepsy
030104 developmental biology
medicine.anatomical_structure
Intellectual disability
Genetics
medicine
medicine.symptom
business
Genetics (clinical)
Subjects
Details
- ISSN :
- 15524825
- Volume :
- 173
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi...........7aac40e64908337ac2faf18e869389d7