Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

Orphanet Journal of Rare Diseases

Angela M Kaindl²  Denise Horn¹  Christoph Hübner⁵  Eva Klopocki³  Birgit Spors⁴  Britta Hartmann⁶  Andreas Busche⁶  Sylvie Picker-Minh² 

[1]Institute of Medical and Human Genetics, Charité ¿ Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, Berlin, 13353, Germany

[2]Institute of Neurobiology and Cell Biology, Charité ¿ Universitätsmedizin Berlin, Campus Mitte, Charitéplatz 1, Berlin, 10115, Germany

[3]Current address: Institute of Human Genetics, University of Würzburg, Biozentrum Am Hubland, Würzburg, 97074, Germany

[4]Department of Pediatric Radiology, Charité ¿ Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, Berlin, 13353, Germany

[5]Department of Pediatric Neurology, Charité ¿ Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, Berlin, 13353, Germany

[6]Institute of Human Genetics, University Medical Center Freiburg, Breisacher Str. 33, Freiburg, 79106, Germany

关键词: Array CGH;    Congenital cataract;    Intellectual disability;    Microcephaly;    Warburg micro syndrome;    WARBM;    RAB3GAP1;   

Others  :  1149680
DOI  :  10.1186/s13023-014-0113-9

 received in 2014-05-08, accepted in 2014-07-07,  发布年份 2014

【 摘 要 】

Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by microcephaly, intellectual disability, brain, ocular, and endocrine anomalies. WARBM1-4 can be caused by biallelic mutations of the RAB3GAP1 (RAB3 GTPase-activating protein 1), RAB3GAP2, RAB18 (RAS-associated protein RAB18), or TBC1D20 (TBC1 domain protein, member 20) gene, respectively. Here, we delineate the so far largest intragenic homozygous RAB3GAP1 microdeletion. Despite the size of the RAB3GAP1 gene deletion, the patient phenotype is mainly consistent with that of other WARBM1 patients, supporting strongly the theory that WARBM1 is caused by a loss of RAB3GAP1 function. We further highlight osteopenia as a feature of WARBM1.

【 授权许可】

   
2014 Picker-Minh et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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