Two Novel Homozygous Rab3gap1 Mutations Cause Warburg Micro Syndrome

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Two Novel Homozygous Rab3gap1 Mutations Cause Warburg Micro Syndrome Publisher

Imagawa E¹ ; Fukai R^{1, 2} ; Behnam M³ ; Goyal M⁴ ; Nouri N⁵ ; Nakashima M¹ ; Tsurusaki Y¹ ; Saitsu H¹ ; Salehi M⁶ ; Kapoor S⁴ ; Tanaka F² ; Miyake N¹ ; Matsumoto N¹

Show Affiliations

1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
2. Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan
3. Medical Genetics Laboratory of Genome, Isfahan, Iran
4. Paediatric Genetic and Research Laboratory Department of Pediatrics, New Medical Block, Opposite Old Casualty, Lok Nayak Hospital, New Delhi, India
5. Tohid Genetic Counseling Center, Isfahan, Iran
6. Division of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Human Genome Variation Published:2015

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. © 2015 The Japan Society of Human Genetics All rights reserved.

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Style	Citing Format
MLA	Imagawa E, et al.. "Two Novel Homozygous Rab3gap1 Mutations Cause Warburg Micro Syndrome." Human Genome Variation, vol. 2, no. 1, 2015, pp. -.
APA	Imagawa E, Fukai R, Behnam M, Goyal M, Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, Miyake N, Matsumoto N (2015). Two Novel Homozygous Rab3gap1 Mutations Cause Warburg Micro Syndrome. Human Genome Variation, 2(1), -.
Chicago	Imagawa E, Fukai R, Behnam M, Goyal M, Nouri N, Nakashima M, Tsurusaki Y, et al.. "Two Novel Homozygous Rab3gap1 Mutations Cause Warburg Micro Syndrome." Human Genome Variation 2, no. 1 (2015): -.
Harvard	Imagawa E et al. (2015) 'Two Novel Homozygous Rab3gap1 Mutations Cause Warburg Micro Syndrome', Human Genome Variation, 2(1), pp. -.
Vancouver	Imagawa E, Fukai R, Behnam M, Goyal M, Nouri N, Nakashima M, et al.. Two Novel Homozygous Rab3gap1 Mutations Cause Warburg Micro Syndrome. Human Genome Variation. 2015;2(1):-.
BibTex	@article{ author = {Imagawa E and Fukai R and Behnam M and Goyal M and Nouri N and Nakashima M and Tsurusaki Y and Saitsu H and Salehi M and Kapoor S and Tanaka F and Miyake N and Matsumoto N}, title = {Two Novel Homozygous Rab3gap1 Mutations Cause Warburg Micro Syndrome}, journal = {Human Genome Variation}, volume = {2}, number = {1}, pages = {-}, year = {2015} }
RIS	TY - JOUR AU - Imagawa E AU - Fukai R AU - Behnam M AU - Goyal M AU - Nouri N AU - Nakashima M AU - Tsurusaki Y AU - Saitsu H AU - Salehi M AU - Kapoor S AU - Tanaka F AU - Miyake N AU - Matsumoto N TI - Two Novel Homozygous Rab3gap1 Mutations Cause Warburg Micro Syndrome JO - Human Genome Variation VL - 2 IS - 1 SP - EP - PY - 2015 ER -

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