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5 records shown · first 60Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene.
PMID 38980565 | PMCID PMC11341592 | DOI 10.1007/s13577-024-01097-4 · Human cell · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Thr422Ala | “In this study, we have generated two clones of induced pluripotent stem cells (iPSCs) from a 10-year-old female BTBGD patient carrying a homozygous mutation for the pathogenic variant in exon 5 of the SLC19A3 gene, c.1264A > G (p.Thr422Ala).” | 0.95 | hgvs_regex_v1 |
| gene | SLC19A3 | “The neurometabolic disorder known as biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive condition linked to bi-allelic pathogenic mutations in the SLC19A3 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “BTBGD is characterized by progressive encephalopathy, confusion, seizures, dysarthria, dystonia, and severe disabilities.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene.” | 0.95 | saudi_context_rules_v1 |
Developing of Biotin-Thiamine Responsive Basal Ganglia Disease after Accidental Ingestion of Ethyl Alcohol: A Case Report.
PMID 38223361 | PMCID PMC10783965 | DOI 10.14581/jer.23010 · Journal of epilepsy research · 2023 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Thr422Ala | “The dramatic response to high doses of thiamine suggested SLC19A3 as a strong candidate gene, and Sanger sequencing revealed a homozygous (NM_025243.4): c.1264A>G (p.Thr422Ala) mutation.” | 0.95 | hgvs_regex_v1 |
| gene | SLC19A3 | “Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, inherited neurometabolic disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that are often triggered by infections.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Herein, we report a 2 and a half-year-old Saudi girl presented with an acute onset of ataxia, slurred speech, and dysphagia, which was preceded by a history of accidental ingestion of around 20 mL of ethyl alcohol that is used in formulating perfumes 1 day earlier.” | 0.95 | saudi_context_rules_v1 |
| variant | c.1264A>G | “The dramatic response to high doses of thiamine suggested SLC19A3 as a strong candidate gene, and Sanger sequencing revealed a homozygous (NM_025243.4): c.1264A>G (p.Thr422Ala) mutation.” | 0.95 | hgvs_regex_v1 |
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
PMID 37670342 | PMCID PMC10478457 | DOI 10.1186/s13023-023-02888-y · Orphanet journal of rare diseases · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Thr422Ala | “Two novel homozygous missense SLC19A3 variants were detected in a Kuwaiti and a Jordanian individuals, in addition to the previously reported Saudi founder homozygous variant, c.1264A > G; p.(Thr422Ala) in the remaining cases.” | 0.95 | hgvs_regex_v1 |
| gene | SLC19A3 | “BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopathy associated with confusion, convulsions, dysphagia, dysarthria, or other neurological manifestations.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “RESULTS: Twenty one cases from 13 different families were diagnosed with BTBGD in Kuwait. Two novel homozygous missense SLC19A3 variants were detected in a Kuwaiti and a Jordanian individuals, in addition to the previously reported Saudi founder homozygous variant, c.1264A > G; p.(Thr422Ala) in the remaining cases.” | 0.95 | saudi_context_rules_v1 |
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
PMID 31557427 | PMCID PMC6801173 | DOI 10.1002/acn3.50898 · Annals of clinical and translational neurology · 2019 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Thr422Ala | “Screening of the SLC19A3 gene revealed a previously reported heterozygous missense mutation (c.1264A>G (p.Thr422Ala) in six unrelated newborns.” | 0.95 | hgvs_regex_v1 |
| gene | SLC19A3 | “Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening. METHODS: BTBGD is a treatable disease if diagnosed at an early age and has been frequently reported in Saudi population. Keeping this in mind, the current study screened 3000 Saudi newborns for the SLC19A3 gene mutations using target sequencing, aiming to determine the carrier frequency in Saudi Population and whether BTBGD is a good candidate to be included in the newborn-screened disorders. RESULTS: Using targeted gene sequencing, DNA from 3000 newborns Saudi was screened for the SLC19A3 gene mutations using standard methods. The variant has been frequently reported previously in homozygous state in Saudi population, making it a hot spot mutation. The current study showed that the carrier frequency of SLC19A3 gene mutation is 1 of 500 in Saudi newborns. CONCLUSION: For the first time in the literature, we determined the carrier frequency of SLC19A3 gene mutation in Saudi population. The estimated prevalence is too rare in Saudi population (at least one in million); therefore, the data are not in favor of including such very rare disorders in newborn screening program at population level.” | 0.95 | saudi_context_rules_v1 |
| variant | c.1264A>G | “Screening of the SLC19A3 gene revealed a previously reported heterozygous missense mutation (c.1264A>G (p.Thr422Ala) in six unrelated newborns.” | 0.95 | hgvs_regex_v1 |
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?
PMID 27749535 | PMCID PMC5059037 | DOI 10.1097/MD.0000000000004819 · Medicine · 2016 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Thr422Ala | “He was proved by molecular genetic testing to have homozygous mutation of c.1264A>G (p.Thr422Ala) in the SLC19A3 gene of BTRBGD.” | 0.95 | hgvs_regex_v1 |
| gene | SLC19A3 | “He was proved by molecular genetic testing to have homozygous mutation of c.1264A>G (p.Thr422Ala) in the SLC19A3 gene of BTRBGD.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? RESULTS: Two-and-half years old Saudi male child whose parents are consanguineous fulfilled the clinical and magnetic resonance imaging (MRI) criteria of BTRBGD.” | 0.95 | saudi_context_rules_v1 |
| variant | c.1264A>G | “He was proved by molecular genetic testing to have homozygous mutation of c.1264A>G (p.Thr422Ala) in the SLC19A3 gene of BTRBGD.” | 0.95 | hgvs_regex_v1 |