Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1

Omid Alavi; Hossein Jafari Khamirani; Sina Zoghi; Afrooz Feili; Seyed Alireza Dastgheib; Seyed Mohammad Bagher Tabei; Jamal Manoochehri; Seyed Mehdi Panahandeh; Majid Kamali; Mehdi Dianatpour

doi:10.1038/s41439-021-00171-9

Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1

Hum Genome Var. 2021 Oct 26;8(1):39. doi: 10.1038/s41439-021-00171-9.

Authors

Omid Alavi^{1

2}, Hossein Jafari Khamirani^{3

4}, Sina Zoghi⁵, Afrooz Feili⁵, Seyed Alireza Dastgheib⁴, Seyed Mohammad Bagher Tabei^{3

6}, Jamal Manoochehri^{4

7}, Seyed Mehdi Panahandeh³, Majid Kamali^{1

2}, Mehdi Dianatpour^{8

9}

Affiliations

¹ Shiraz Institute for Stem Cell and Regenerative Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
² Department of Tissue Engineering and Cell Therapy, School of Advanced Technologies in Medicine, Shiraz University of Medical Science, Shiraz, Iran.
³ Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
⁴ Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
⁵ Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
⁶ Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
⁷ Department of Genetics, Fars Science and Research Branch, Islamic Azad University, Marvdasht, Iran.
⁸ Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. [email protected].
⁹ Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. [email protected].

Abstract

In this study, we detected a novel pathogenic variant and a previously reported variant in RAB3GAP1 by whole-exome sequencing (NM_001172435.2: c.1552C>T, p.Gln518*; c.1471C>T, p.Arg491*). The first patient is a 3-year-old girl who presented with bilateral congenital cataracts, developmental delay, abnormal craniofacial features, drug-resistant constipation, and corpus callosum hypoplasia. The proband of the second family is a 13-year-old boy who suffers from developmental delay, quadriplegia, intellectual disability, abnormal craniofacial features, and corpus callosum hypoplasia.