title: Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.
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.
  
  
  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.
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children’s Research Hospital, Rome, Italy
authors.forename: Marianna
authors.initials: M
authors.lastname: Ciccolella
authors.forename: Stefania
authors.initials: S
authors.lastname: Corti
authors.forename: Michela
authors.initials: M
authors.lastname: Catteruccia
authors.forename: Stefania
authors.initials: S
authors.lastname: Petrini
authors.forename: Giulia
authors.initials: G
authors.lastname: Tozzi
authors.forename: Teresa
authors.initials: T
authors.lastname: Rizza
authors.forename: Rosalba
authors.initials: R
authors.lastname: Carrozzo
authors.forename: Monica
authors.initials: M
authors.lastname: Nizzardo
authors.forename: Andreina
authors.initials: A
authors.lastname: Bordoni
authors.forename: Dario
authors.initials: D
authors.lastname: Ronchi
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.forename: Cristiano
authors.initials: C
authors.lastname: Rizzo
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
mesh_terms: D000595:Amino Acid Sequence; D010244:Bulbar Palsy, Progressive / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D016415:Sequence Alignment
chemical_list: D026901:Membrane Transport Proteins; D043562:Receptors, G-Protein-Coupled; C540350:SLC52A2 protein, human; C548553:SLC52A3 protein, human