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

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 d...

Full description

Bibliographic Details
Main Authors:	L.J. Sremba, R.C. Chang, N.M. Elbalalesy, E.J. Cambray-Forker, J.E. Abdenur
Format:	Article
Language:	English
Published:	Elsevier 2014-01-01
Series:	Molecular Genetics and Metabolism Reports
Subjects:	Biotin thiamine responsive basal ganglia disease BTBGD Leigh syndrome SLC19A3 Basal ganglia Thiamine transporter-2
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426914000500

id	doaj-2e94d1d2e3754ccc81652596abf8b0aa
record_format	Article
spelling	doaj-2e94d1d2e3754ccc81652596abf8b0aa2020-11-24T22:56:51ZengElsevierMolecular Genetics and Metabolism Reports2214-42692014-01-011C36837210.1016/j.ymgmr.2014.07.008Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia diseaseL.J. Sremba0R.C. Chang1N.M. Elbalalesy2E.J. Cambray-Forker3J.E. Abdenur4Division of Metabolic Disorders, CHOC Children’s, 1201 W. La Veta Ave. Orange, CA, 92868, USADivision of Metabolic Disorders, CHOC Children’s, 1201 W. La Veta Ave. Orange, CA, 92868, USADivision of Neurology, CHOC Children’s, 1201 W. La Veta Ave. Orange, CA, 92868, USADivision of Diagnostic Radiology, CHOC Children's, 1201 W. La Veta Ave. Orange, CA 92868, USADivision of Metabolic Disorders, CHOC Children’s, 1201 W. La Veta Ave. Orange, CA, 92868, USABiotin-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.http://www.sciencedirect.com/science/article/pii/S2214426914000500Biotin thiamine responsive basal ganglia diseaseBTBGDLeigh syndromeSLC19A3Basal gangliaThiamine transporter-2
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	L.J. Sremba R.C. Chang N.M. Elbalalesy E.J. Cambray-Forker J.E. Abdenur
spellingShingle	L.J. Sremba R.C. Chang N.M. Elbalalesy E.J. Cambray-Forker J.E. Abdenur Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease Molecular Genetics and Metabolism Reports Biotin thiamine responsive basal ganglia disease BTBGD Leigh syndrome SLC19A3 Basal ganglia Thiamine transporter-2
author_facet	L.J. Sremba R.C. Chang N.M. Elbalalesy E.J. Cambray-Forker J.E. Abdenur
author_sort	L.J. Sremba
title	Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease
title_short	Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease
title_full	Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease
title_fullStr	Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease
title_full_unstemmed	Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease
title_sort	whole exome sequencing reveals compound heterozygous mutations in slc19a3 causing biotin-thiamine responsive basal ganglia disease
publisher	Elsevier
series	Molecular Genetics and Metabolism Reports
issn	2214-4269
publishDate	2014-01-01
description	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.
topic	Biotin thiamine responsive basal ganglia disease BTBGD Leigh syndrome SLC19A3 Basal ganglia Thiamine transporter-2
url	http://www.sciencedirect.com/science/article/pii/S2214426914000500
work_keys_str_mv	AT ljsremba wholeexomesequencingrevealscompoundheterozygousmutationsinslc19a3causingbiotinthiamineresponsivebasalgangliadisease AT rcchang wholeexomesequencingrevealscompoundheterozygousmutationsinslc19a3causingbiotinthiamineresponsivebasalgangliadisease AT nmelbalalesy wholeexomesequencingrevealscompoundheterozygousmutationsinslc19a3causingbiotinthiamineresponsivebasalgangliadisease AT ejcambrayforker wholeexomesequencingrevealscompoundheterozygousmutationsinslc19a3causingbiotinthiamineresponsivebasalgangliadisease AT jeabdenur wholeexomesequencingrevealscompoundheterozygousmutationsinslc19a3causingbiotinthiamineresponsivebasalgangliadisease
_version_	1725653033957720064

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

Similar Items