Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

Eri Imagawa; Ryoko Fukai; Mahdiyeh Behnam; Manisha Goyal; Narges Nouri; Mitsuko Nakashima; Yoshinori Tsurusaki; Hirotomo Saitsu; Mansour Salehi; Seema Kapoor; Fumiaki Tanaka; Noriko Miyake; Naomichi Matsumoto

doi:10.1038/HGV.2015.34

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

Eri Imagawa
, Ryoko Fukai
, Mahdiyeh Behnam
, Manisha Goyal
, Narges Nouri
, Mitsuko Nakashima
, Yoshinori Tsurusaki
, Hirotomo Saitsu
, Mansour Salehi
, Seema Kapoor
, Fumiaki Tanaka
, Noriko Miyake
, Naomichi Matsumoto

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

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.22G4T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) in two consanguineous families by whole-exome sequencing.

Original language	English
Article number	15034
Journal	Human Genome Variation
Volume	2
Issue number	1
DOIs	https://doi.org/10.1038/HGV.2015.34
State	Published - 2015
Externally published	Yes

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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.22G4T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) in two consanguineous families by whole-exome sequencing.",

author = "Eri Imagawa and Ryoko Fukai and Mahdiyeh Behnam and Manisha Goyal and Narges Nouri and Mitsuko Nakashima and Yoshinori Tsurusaki and Hirotomo Saitsu and Mansour Salehi and Seema Kapoor and Fumiaki Tanaka and Noriko Miyake and Naomichi Matsumoto",

year = "2015",

doi = "10.1038/HGV.2015.34",

language = "English",

volume = "2",

journal = "Human Genome Variation",

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T1 - Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

AU - Imagawa, Eri

AU - Fukai, Ryoko

AU - Behnam, Mahdiyeh

AU - Goyal, Manisha

AU - Nouri, Narges

AU - Nakashima, Mitsuko

AU - Tsurusaki, Yoshinori

AU - Saitsu, Hirotomo

AU - Salehi, Mansour

AU - Kapoor, Seema

AU - Tanaka, Fumiaki

AU - Miyake, Noriko

AU - Matsumoto, Naomichi

PY - 2015

Y1 - 2015

N2 - 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.22G4T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) in two consanguineous families by whole-exome sequencing.

AB - 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.22G4T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) in two consanguineous families by whole-exome sequencing.

UR - https://www.scopus.com/pages/publications/85045772189

U2 - 10.1038/HGV.2015.34

DO - 10.1038/HGV.2015.34

M3 - Article

AN - SCOPUS:85045772189

SN - 2054-345X

VL - 2

JO - Human Genome Variation

JF - Human Genome Variation

IS - 1

M1 - 15034

ER -

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

Abstract

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