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01.12.2014 | Letter to the Editor | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

Zeitschrift:
Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Autoren:
Sylvie Picker-Minh, Andreas Busche, Britta Hartmann, Birgit Spors, Eva Klopocki, Christoph Hübner, Denise Horn, Angela M Kaindl
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Electronic supplementary material

The online version of this article (doi:10.​1186/​s13023-014-0113-9) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Abstract

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.
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