SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters
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- 作者：Tamilarasan Udhayabanua ; Veedamali S Subramanianb ; c ; Trevor Teafatillerc ; Vykuntaraju K Gowdad ; Varun S Raghavand ; Perumal Varalakshmia ; Hamid M Saidb ; c ; Balasubramaniem Ashokkumara ; rbashokkumar@yahoo.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：hRFVT ; human Riboflavin Transporter ; BVVLS ; Brown-Vialetto-Van Laere Syndrome ; SLC ; Solute Carrier ; RF ; Riboflavin ; RFLP ; Restriction Fragment Length Polymorphism ; DMEM ; Dulbecco's Modified Eagle Medium ; HuTu ; Human duodenum adenocarcinoma cells ; U87 ; Human brain cells ; GFP ; Green Fluorescent Protein
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：1 November 2016
- 年：2016
- 卷：462
- 期：Complete
- 页码：210-214
- 全文大小：865 K
文摘
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Two homozygous missense mutations viz., c.421C > A in SLC52A2 and c.62A > G in SLC52A3 were identified in the same BVVLS patient.
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Drastic reduction in 3H-riboflavin uptake was perceived with hRFVT-3::p.N21S than hRFVT-2::p.P141T.
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hRFVT-3::p.N21S mutant displayed no membranous expression due to defective membrane trafficking and targeting.