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Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
Orphanet J Rare Dis. 2014 Oct 21; 9:113.OJ

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.

Authors

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Pub Type(s)

Case Reports
Letter
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

25332050

Citation

Picker-Minh, Sylvie, et al. "Large Homozygous RAB3GAP1 Gene Microdeletion Causes Warburg Micro Syndrome 1." Orphanet Journal of Rare Diseases, vol. 9, 2014, p. 113.
Picker-Minh S, Busche A, Hartmann B, et al. Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. Orphanet J Rare Dis. 2014;9:113.
Picker-Minh, S., Busche, A., Hartmann, B., Spors, B., Klopocki, E., Hübner, C., Horn, D., & Kaindl, A. M. (2014). Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. Orphanet Journal of Rare Diseases, 9, 113. https://doi.org/10.1186/s13023-014-0113-9
Picker-Minh S, et al. Large Homozygous RAB3GAP1 Gene Microdeletion Causes Warburg Micro Syndrome 1. Orphanet J Rare Dis. 2014 Oct 21;9:113. PubMed PMID: 25332050.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. AU - Picker-Minh,Sylvie, AU - Busche,Andreas, AU - Hartmann,Britta, AU - Spors,Birgit, AU - Klopocki,Eva, AU - Hübner,Christoph, AU - Horn,Denise, AU - Kaindl,Angela M, Y1 - 2014/10/21/ PY - 2014/05/08/received PY - 2014/07/07/accepted PY - 2014/10/22/entrez PY - 2014/10/22/pubmed PY - 2015/7/21/medline SP - 113 EP - 113 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 9 N2 - 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. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/25332050/Large_homozygous_RAB3GAP1_gene_microdeletion_causes_Warburg_micro_syndrome_1_ L2 - https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0113-9 DB - PRIME DP - Unbound Medicine ER -