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Manimaran, Paramasivam; Subramanian, Veedamali S.; Karthi, Sellamuthu; Gandhimathi, Krishnan; Varalakshmi, Perumal; Ganesh, Ramasamy; Rathinavel, Andiappan; Said, Hamid M.; Ashokkumar, Balasubramaniem
Clinica chimica acta, 01/2016, Letnik: 452Journal Article
Thiamine-responsive megaloblastic anemia (TRMA), an autosomal recessive disorder, is caused by mutations in SLC19A2 gene encodes a high affinity thiamine transporter (THTR-1). The occurrence of TRMA is diagnosed by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Here, we report a female TRMA patient of Indian descent born to 4th degree consanguineous parents presented with retinitis pigmentosa and vision impairment, who had a novel homozygous mutation (c.1232delT/ter422; p.Ile411Metfs*12) in 5th exon of SLC19A2 gene that causes premature termination of hTHTR-1. PROSITE analysis predicted to abrogate GPCRs family-1 signature motif in the variant by this mutation c.1232delT/ter422, suggesting uncharacteristic rhodopsin function leading to cause RP clinically. Thiamine transport activity by the clinical variant was severely inhibited than wild-type THTR-1. Confocal imaging had shown that the variant p.I411Mfs*12 is targeted to the cell membrane and showed no discrepancy in membrane expression than wild-type. Our findings are the first report, to the best of our knowledge, on this novel nonsense mutation of hTHTR-1 causing TRMA in an Indian patient through functionally impaired thiamine transporter activity. •We analyzed the SLC19A2 gene in a TRMA patient of Indian descent.•A novel nonsense mutation was identified in the SLC19A2 gene for the first time.•GPCR motif ablation in variant suggesting a role in vision impairment of patient.•Thiamine transport activity by the variant was completely disrupted.
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