Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease

L J Sremba; R C Chang; N M Elbalalesy; E J Cambray-Forker; J E Abdenur

doi:10.1016/j.ymgmr.2014.07.008

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease

Mol Genet Metab Rep. 2014 Aug 28:1:368-372. doi: 10.1016/j.ymgmr.2014.07.008. eCollection 2014.

Authors

L J Sremba¹, R C Chang², N M Elbalalesy³, E J Cambray-Forker⁴, J E Abdenur²

Affiliations

¹ Division of Metabolic Disorders, CHOC Children's, 1201 W. La Veta Ave. Orange, CA, 92868, USA.
² Division of Metabolic Disorders, CHOC Children's, 1201 W. La Veta Ave. Orange, CA, 92868, USA; Department of Pediatrics, University of California, Irvine, 505 S. Main St. Orange, CA 92868, USA.
³ Division of Neurology, CHOC Children's, 1201 W. La Veta Ave. Orange, CA, 92868, USA; Department of Pediatrics, University of California, Irvine, 505 S. Main St. Orange, CA 92868, USA.
⁴ Division of Diagnostic Radiology, CHOC Children's, 1201 W. La Veta Ave. Orange, CA 92868, USA.

Abstract

Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare metabolic condition caused by mutations in the SLC19A3 gene. BTBGD presents with encephalopathy and significant disease progression when not treated with biotin and/or thiamine. We present a patient of Mexican and European ancestry diagnosed with BTBGD found to have compound heterozygous frameshift mutations, one novel. Our report adds to the genotype-phenotype correlation, highlighting the clinical importance of considering SLC19A3 gene defects as part of the differential diagnosis for Leigh syndrome.

Keywords: BTBGD; Basal ganglia; Biotin thiamine responsive basal ganglia disease; Leigh syndrome; SLC19A3; Thiamine transporter-2.