title: Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome.
abstract: 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.
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors.forename: Eri
authors.initials: E
authors.lastname: Imagawa
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
authors.forename: Ryoko
authors.initials: R
authors.lastname: Fukai
authors.affiliation: Medical Genetics Laboratory of Genome , Isfahan, Iran.
authors.forename: Mahdiyeh
authors.initials: M
authors.lastname: Behnam
authors.affiliation: Paediatric Genetic and Research Laboratory Department of Pediatrics, New Medical Block, Opposite Old Casualty, Lok Nayak Hospital , New Delhi, India.
authors.forename: Manisha
authors.initials: M
authors.lastname: Goyal
authors.affiliation: Tohid Genetic Counseling Center , Isfahan, Iran.
authors.forename: Narges
authors.initials: N
authors.lastname: Nouri
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Nakashima
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors.forename: Hirotomo
authors.identifier: 0000-0003-0723-0960
authors.initials: H
authors.lastname: Saitsu
authors.affiliation: Division of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences , Isfahan, Iran.
authors.forename: Mansour
authors.initials: M
authors.lastname: Salehi
authors.affiliation: Paediatric Genetic and Research Laboratory Department of Pediatrics, New Medical Block, Opposite Old Casualty, Lok Nayak Hospital , New Delhi, India.
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
authors.affiliation: Department of Neurology and Stroke Medicine, Yokohama City University , Yokohama, Japan.
authors.forename: Fumiaki
authors.initials: F
authors.lastname: Tanaka
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto