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J Med Genet. 2013 Feb;50(2):104-7. doi: 10.1136/jmedgenet-2012-101204. Epub 2012 Dec 14.

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

Author information

1
Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children’s Research Hospital, Rome, Italy

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.

PMID:
23243084
DOI:
10.1136/jmedgenet-2012-101204
[Indexed for MEDLINE]

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