Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome.

Eri ImagawaRyoko FukaiMahdiyeh BehnamManisha GoyalNarges NouriMitsuko NakashimaYoshinori TsurusakiHirotomo SaitsuMansour SalehiSeema KapoorFumiaki TanakaNoriko MiyakeNaomichi Matsumoto

Published in: Human genome variation (2015)

Warburg micro syndrome is an autosomal recessive disease where patients present with optic, neurologic and genital symptoms. Until now, four disease genes for Warburg micro syndrome, RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20, have been identified. Here, we report two novel homozygous RAB3GAP1 mutations (c.22G>T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) in two consanguineous families by whole-exome sequencing.

Keyphrases

case report
newly diagnosed
ejection fraction
prognostic factors
genome wide
intellectual disability
dna methylation
anti inflammatory