Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant |
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| Authors: | Lucie Sedláčková Petra Laššuthová Katalin Štěrbová Markéta Vlčková Martin Kudr Irena Buksakowska David Staněk Pavel Seeman |
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| Affiliation: | 1. Genetic Health Queensland, Royal Brisbane and Women''s Hospital, QLD, Australia;2. Department of Neurosciences, Queensland Children''s Hospital, Brisbane, QLD, Australia;3. School of Medicine, The University of Queensland, Brisbane, QLD, Australia;4. Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia;5. Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia;1. Paediatric Medicine, KK Women''s and Children''s Hospital, Singapore;2. Dermatology Service, KK Women''s and Children''s Hospital, Singapore;3. SingHealth Duke-NUS Paediatric Academic Medicine Programme, Singapore;4. Research Laboratory, KK Women''s and Children''s Hospital, Singapore;5. Clinical Translational Research, Singapore General Hospital, Singapore;1. Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark;2. Centre for Rare Diseases, Pediatric and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark;3. Centre for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark;4. Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark |
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| Abstract: | ![]()
IntroductionBiallelic variants in the SLC1A4 gene have been so far identified as a very rare cause of neurodevelopmental disorders with or without epilepsy and almost exclusively described in the Ashkenazi-Jewish population.Patients and methodsHere we present Czech patient with microcephaly, severe global developmental delay and intractable seizures whose condition remained undiagnosed despite access to clinical experience and standard diagnostic methods including examination with an epilepsy targeted NGS gene panel.ResultsWhole exome sequencing revealed a novel variant NM_003038.4:c.1370G > A p.(Arg457Gln) of the SLC1A4 gene in a homozygous state in the patient, and afterwards Sanger sequencing in both parents confirmed the biallelic origin of the variant. A variant in the same codon, but with a different amino acid exchange, was described previously in a patient that had a very similar phenotype, however, without epilepsy.ConclusionOur data suggest that the SLC1A4 gene should be considered in the diagnosis of patients with severe, early onset neurodevelopmental impairment with epilepsy and encourage the analysis of SLC1A4 gene variants via targeted NGS gene panel or whole exome sequencing. |
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| Keywords: | SLC1A4 Neurodevelopmental disorder Epilepsy Whole exome sequencing |
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