2. Academic Validation
  3. Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

  • J Med Genet. 2013 Feb;50(2):104-7. doi: 10.1136/jmedgenet-2012-101204.
Marianna Ciccolella 1,  Stefania Corti,  Michela Catteruccia,  Stefania Petrini,  Giulia Tozzi,  Teresa Rizza,  Rosalba Carrozzo,  Monica Nizzardo,  Andreina Bordoni,  Dario Ronchi,  Adele D'Amico,  Cristiano Rizzo,  Giacomo Pietro Comi,  Enrico Bertini
Affiliations

Affiliation

  • 1 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children’s Research Hospital, Rome, Italy
PMID: 23243084 DOI: 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.

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