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

被引：29

作者：

Ciccolella, Marianna ^{[1
]}

Corti, Stefania ^{[2
]}

Catteruccia, Michela ^{[1
]}

Petrini, Stefania ^{[3
]}

Tozzi, Giulia ^{[1
]}

Rizza, Teresa ^{[1
]}

Carrozzo, Rosalba ^{[1
]}

Nizzardo, Monica ^{[2
]}

Bordoni, Andreina ^{[2
]}

Ronchi, Dario ^{[2
]}

D'Amico, Adele ^{[1
]}

Rizzo, Cristiano ^{[1
]}

Comi, Giacomo Pietro ^{[2
]}

Bertini, Enrico ^{[1
]}

机构：

[1] Bambino Gesu Childrens Res Hosp, Unit Neuromuscular & Neurodegenerat Disorders, Mol Med Lab, I-00165 Rome, Italy

[2] Univ Milan, Dino Ferrari Ctr, Neurosci Sect,IRCCS Fdn Ca Granda Osped Maggiore, Dept Pathophysiol & Transplantat DEPT,Neurol Unit, Milan, Italy

[3] Bambino Gesu Childrens Res Hosp, Confocal Microscopy Core Facil, Rome, Italy

来源：

JOURNAL OF MEDICAL GENETICS | 2013年 / 50卷 / 02期

关键词：

FUNCTIONAL-CHARACTERIZATION; IDENTIFICATION; DEAFNESS; PALSY;

D O I：

10.1136/jmedgenet-2012-101204

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：104 / 107

页数：4

共 20 条

[11] 2 INTERCONNECTED VITAMIN-B - RIBOFLAVIN AND PYRIDOXINE [J].