PT  - JOURNAL ARTICLE
AU  - Ciccolella, Marianna
AU  - Corti, Stefania
AU  - Catteruccia, Michela
AU  - Petrini, Stefania
AU  - Tozzi, Giulia
AU  - Rizza, Teresa
AU  - Carrozzo, Rosalba
AU  - Nizzardo, Monica
AU  - Bordoni, Andreina
AU  - Ronchi, Dario
AU  - D'Amico, Adele
AU  - Rizzo, Cristiano
AU  - Comi, Giacomo Pietro
AU  - Bertini, Enrico
TI  - Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations
AID  - 10.1136/jmedgenet-2012-101204
DP  - 2013 Feb 01
TA  - Journal of Medical Genetics
PG  - 104--107
VI  - 50
IP  - 2
4099  - http://jmg.bmj.com/content/50/2/104.short
4100  - http://jmg.bmj.com/content/50/2/104.full
SO  - J Med Genet2013 Feb 01; 50
AB  - 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.