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Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.

Clinica chimica acta; international journal of clinical chemistry - 15 Jan 2016

Manimaran Paramasivam, Subramanian Veedamali S, Karthi Sellamuthu, Gandhimathi Krishnan, Varalakshmi Perumal, Ganesh Ramasamy, Rathinavel Andiappan, Said Hamid M, Ashokkumar Balasubramaniem

Abstract excerpt

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...

Topics

Anemia, Megaloblastic
Child, Preschool
Codon, Nonsense
Diabetes Mellitus
Female
Genotype
Hearing Loss, Sensorineural
Humans
India
Membrane Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Thiamine Deficiency

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PMID: 26549656
DOI: 10.1016/j.cca.2015.11.002

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