Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease : two novel mutations
Articolo
Data di Pubblicazione:
2013
Citazione:
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease : two novel mutations / M. Ciccolella, S. Corti, M. Catteruccia, S. Petrini, G. Tozzi, T. Rizza, R. Carrozzo, M. Nizzardo, A. Bordoni, D. Ronchi, A. D'Amico, C. Rizzo, G.P. Comi, E. Bertini. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - 50:2(2013 Feb), pp. 104-107. [10.1136/jmedgenet-2012-101204]
Abstract:
Background: Brown-Vialetto-Van Laere (BVVL) syndrome is a rare disorder characterised by progressive pontobulbar palsy and sensorineural deafness. Causative mutations in genes encoding human riboflavin transporter 2 (hRFT2) and 3 (hRFT3) have been identified in BVVL patients.
Methods and results: We report the clinical and molecular features of a severe BVVL patient in whom screening of SLC52A3/hRFT2 was negative. Sequence analysis identified two novel compound heterozygous mutations in SLC52A2/hRFT3, namely c.155C>T and c.1255G>A, leading to the amino acid changes p.S52F and p.G419S, respectively. Functional studies show that these defects impair the gene expression of the corresponding transporter, resulting in a significant reduction of riboflavin transport.
Conclusions: These findings support the pathogenetic role of SLC52A2/hRFT3 in BVVL with important clinical and therapeutic implications.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Amino Acid Sequence ; Bulbar Palsy, Progressive ; Child, Preschool ; DNA Mutational Analysis ; Fatal Outcome ; Hearing Loss, Sensorineural ; Humans ; Male ; Membrane Transport Proteins ; Molecular Sequence Data ; Receptors, G-Protein-Coupled ; Sequence Alignment
Elenco autori:
M. Ciccolella, S. Corti, M. Catteruccia, S. Petrini, G. Tozzi, T. Rizza, R. Carrozzo, M. Nizzardo, A. Bordoni, D. Ronchi, A. D'Amico, C. Rizzo, G.P. Comi, E. Bertini
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