A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations
Kenichiro Yamada, Kiyokuni Miura, Kenju Hara, Motomasa Suzuki, Keiko Nakanishi, Toshiyuki Kumagai, Naoko Ishihara, Yasukazu Yamada, Ryozo Kuwano, Shoji Tsuji, Nobuaki Wakamatsu
Background: SLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinical phenotypes, biotin-responsive basal ganglia disease and Wernicke's-like encephalopathy. Biotin and/or thiamin are effective therapies for both diseases.Methods: We conducted on the detailed clinical, brain MRI and molecular genetic analysis of four Japanese patients in a Japanese pedigree who presented with epileptic spasms in early infancy, severe psychomotor retardation, and characteristic brain MRI findings of progressive brain atrophy and bilateral thalami and basal ganglia lesions.Results: Genome-wide linkage analysis revealed a disease locus at chromosome 2q35-37, which enabled identification of the causative mutation in the gene SLC19A3. A pathogenic homozygous mutation (c.958G > C, [p.E320Q]) in SLC19A3 was identified in all four patients and their parents were heterozygous for the mutation. Administration of a high dose of biotin for one year improved neither the neurological symptoms nor the brain MRI findings in one patient.Conclusion: Our cases broaden the phenotypic spectrum of disorders associated with SLC19A3 mutations and highlight the potential benefit of biotin and/or thiamin treatments and the need to assess the clinical efficacy of these treatments.
BMC Medical Genetics
https://doi.org/10.1186/1471-2350-11-171
Published - 22-12-2010
Genetics(clinical)
10.1186/1471-2350-11-171
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Thiamine Medicine & Life Sciences
Biotin Medicine & Life Sciences
Biotin-responsive basal ganglia disease Medicine & Life Sciences
Wernicke Encephalopathy Medicine & Life Sciences
Spasm Medicine & Life Sciences
Pedigree Medicine & Life Sciences
Yamada, K., Miura, K., Hara, K., Suzuki, M., Nakanishi, K., Kumagai, T., Ishihara, N., Yamada, Y., Kuwano, R., Tsuji, S., & Wakamatsu, N. (2010). A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Medical Genetics, 11(1), [171]. https://doi.org/10.1186/1471-2350-11-171
Yamada, Kenichiro ; Miura, Kiyokuni ; Hara, Kenju ; Suzuki, Motomasa ; Nakanishi, Keiko ; Kumagai, Toshiyuki ; Ishihara, Naoko ; Yamada, Yasukazu ; Kuwano, Ryozo ; Tsuji, Shoji ; Wakamatsu, Nobuaki. / A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. In: BMC Medical Genetics. 2010 ; Vol. 11, No. 1.
@article{fe031c2e63fb419c94adb053b5c6a570,
title = "A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations",
abstract = "Background: SLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinical phenotypes, biotin-responsive basal ganglia disease and Wernicke's-like encephalopathy. Biotin and/or thiamin are effective therapies for both diseases.Methods: We conducted on the detailed clinical, brain MRI and molecular genetic analysis of four Japanese patients in a Japanese pedigree who presented with epileptic spasms in early infancy, severe psychomotor retardation, and characteristic brain MRI findings of progressive brain atrophy and bilateral thalami and basal ganglia lesions.Results: Genome-wide linkage analysis revealed a disease locus at chromosome 2q35-37, which enabled identification of the causative mutation in the gene SLC19A3. A pathogenic homozygous mutation (c.958G > C, [p.E320Q]) in SLC19A3 was identified in all four patients and their parents were heterozygous for the mutation. Administration of a high dose of biotin for one year improved neither the neurological symptoms nor the brain MRI findings in one patient.Conclusion: Our cases broaden the phenotypic spectrum of disorders associated with SLC19A3 mutations and highlight the potential benefit of biotin and/or thiamin treatments and the need to assess the clinical efficacy of these treatments.",
author = "Kenichiro Yamada and Kiyokuni Miura and Kenju Hara and Motomasa Suzuki and Keiko Nakanishi and Toshiyuki Kumagai and Naoko Ishihara and Yasukazu Yamada and Ryozo Kuwano and Shoji Tsuji and Nobuaki Wakamatsu",
doi = "10.1186/1471-2350-11-171",
journal = "BMC Medical Genetics",
publisher = "BioMed Central",
Yamada, K, Miura, K, Hara, K, Suzuki, M, Nakanishi, K, Kumagai, T, Ishihara, N, Yamada, Y, Kuwano, R, Tsuji, S & Wakamatsu, N 2010, 'A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations', BMC Medical Genetics, vol. 11, no. 1, 171. https://doi.org/10.1186/1471-2350-11-171
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. / Yamada, Kenichiro; Miura, Kiyokuni; Hara, Kenju; Suzuki, Motomasa; Nakanishi, Keiko; Kumagai, Toshiyuki; Ishihara, Naoko; Yamada, Yasukazu; Kuwano, Ryozo; Tsuji, Shoji; Wakamatsu, Nobuaki.
In: BMC Medical Genetics, Vol. 11, No. 1, 171, 22.12.2010.
T1 - A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations
AU - Yamada, Kenichiro
AU - Miura, Kiyokuni
AU - Hara, Kenju
AU - Suzuki, Motomasa
AU - Nakanishi, Keiko
AU - Kumagai, Toshiyuki
AU - Ishihara, Naoko
AU - Yamada, Yasukazu
AU - Kuwano, Ryozo
AU - Tsuji, Shoji
AU - Wakamatsu, Nobuaki
N2 - Background: SLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinical phenotypes, biotin-responsive basal ganglia disease and Wernicke's-like encephalopathy. Biotin and/or thiamin are effective therapies for both diseases.Methods: We conducted on the detailed clinical, brain MRI and molecular genetic analysis of four Japanese patients in a Japanese pedigree who presented with epileptic spasms in early infancy, severe psychomotor retardation, and characteristic brain MRI findings of progressive brain atrophy and bilateral thalami and basal ganglia lesions.Results: Genome-wide linkage analysis revealed a disease locus at chromosome 2q35-37, which enabled identification of the causative mutation in the gene SLC19A3. A pathogenic homozygous mutation (c.958G > C, [p.E320Q]) in SLC19A3 was identified in all four patients and their parents were heterozygous for the mutation. Administration of a high dose of biotin for one year improved neither the neurological symptoms nor the brain MRI findings in one patient.Conclusion: Our cases broaden the phenotypic spectrum of disorders associated with SLC19A3 mutations and highlight the potential benefit of biotin and/or thiamin treatments and the need to assess the clinical efficacy of these treatments.
AB - Background: SLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinical phenotypes, biotin-responsive basal ganglia disease and Wernicke's-like encephalopathy. Biotin and/or thiamin are effective therapies for both diseases.Methods: We conducted on the detailed clinical, brain MRI and molecular genetic analysis of four Japanese patients in a Japanese pedigree who presented with epileptic spasms in early infancy, severe psychomotor retardation, and characteristic brain MRI findings of progressive brain atrophy and bilateral thalami and basal ganglia lesions.Results: Genome-wide linkage analysis revealed a disease locus at chromosome 2q35-37, which enabled identification of the causative mutation in the gene SLC19A3. A pathogenic homozygous mutation (c.958G > C, [p.E320Q]) in SLC19A3 was identified in all four patients and their parents were heterozygous for the mutation. Administration of a high dose of biotin for one year improved neither the neurological symptoms nor the brain MRI findings in one patient.Conclusion: Our cases broaden the phenotypic spectrum of disorders associated with SLC19A3 mutations and highlight the potential benefit of biotin and/or thiamin treatments and the need to assess the clinical efficacy of these treatments.
U2 - 10.1186/1471-2350-11-171
DO - 10.1186/1471-2350-11-171
JO - BMC Medical Genetics
JF - BMC Medical Genetics
Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T et al. A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Medical Genetics. 2010 Dec 22;11(1). 171. https://doi.org/10.1186/1471-2350-11-171
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