Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report.

American Journal of Medical Genetics. Part a
Maria Arvio, Jaana Lähdetie

Abstract

Homozygous recessive or compound heterozygous mutations in SLC13A5-gene as a cause of Early Infantile Epileptic Encephalopathy subtype 25 (OMIM 615905) were published in 2014. Previous clinical reports describe young patients, aged <34 years. We describe 54- and 56-year-old siblings and show that the disorder linked to SLC13A5 is not just a pediatric problem but may affect the patient for decades resulting in profound intellectual disability, severe motor handicap, and abnormal electroencephalography without active epilepsy. Other diagnostic hints in adults are small size, spasticity and severe abrasion due to amelogenesis imperfecta of the hypoplastic type.

References

Jul 6, 2014·American Journal of Human Genetics·Julien ThevenonJean-Baptiste Rivière
Sep 20, 2015·Brain : a Journal of Neurology·Katia HardiesUNKNOWN autosomal recessive working group of the EuroEPINOMICS RES Consortium
Mar 11, 2016·JIMD Reports·Irina AnselmGerard T Berry
Sep 8, 2016·Journal of Medical Genetics·Anna SchossigInes Kapferer-Seebacher
Dec 4, 2016·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Lauren C WeekeLinda S de Vries
Mar 24, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lisenka E L M VissersMichèl A A P Willemsen
Jul 5, 2017·Molecular Genetics and Metabolism·Matthew N BainbridgeBrett H Graham
Jul 1, 2018·European Journal of Human Genetics : EJHG·Terry VrijenhoekGerardus W J Frederix

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