ArticleAnnals of clinical and translational neurology2019
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 65 citations in OpenAlex.
- Substrate transport and drug interaction of human thiamine transporters SLC19A2/A3.Nature communications · 2024Article
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- The genetic cause of neurodevelopmental disorders in 30 consanguineous families.Frontiers in medicine · 2024Article
- Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.BMC medical genomics · 2023Article
- Developing of Biotin-Thiamine Responsive Basal Ganglia Disease after Accidental Ingestion of Ethyl Alcohol: A Case Report.Journal of epilepsy research · 2023Article
- Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.Metabolic brain disease · 2023Article
- Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.Orphanet journal of rare diseases · 2023Article
- Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.BMC medical genomics · 2023Article
- Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.Pediatric nephrology (Berlin, Germany) · 2023Article
- Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.Genes · 2023Article
- De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia.BMC medical genomics · 2023Article
- Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.Molecular genetics & genomic medicine · 2023Article
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- Novel Variants inGenes · 2023Article
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- Genetic variations in theFrontiers in genetics · 2023Article
- Identification of five novel variants ofFrontiers in pediatrics · 2023Article
- Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.Bioscience reports · 2022Article
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Authors and funding
20 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBiotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to neuroregression and death if untreated. Using biotin and thiamine at an early stage of the disease can lead to significant improvement.
methodsBTBGD 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.
resultsUsing targeted gene sequencing, DNA from 3000 newborns Saudi was screened for the SLC19A3 gene mutations using standard methods. Screening of the SLC19A3 gene revealed a previously reported heterozygous missense mutation (c.1264A>G (p.Thr422Ala) in six unrelated newborns. No probands having homozygous pathogenic mutations were found in the studied cohort. 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.
conclusionFor 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. However, a larger cohort is needed for a more accurate estimate.
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