title: Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
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.forename: Sylvie
authors.initials: S
authors.lastname: Picker-Minh
authors.forename: Andreas
authors.initials: A
authors.lastname: Busche
authors.forename: Britta
authors.initials: B
authors.lastname: Hartmann
authors.forename: Birgit
authors.initials: B
authors.lastname: Spors
authors.forename: Eva
authors.initials: E
authors.lastname: Klopocki
authors.forename: Christoph
authors.initials: C
authors.lastname: Hübner
authors.forename: Denise
authors.initials: D
authors.lastname: Horn
authors.forename: Angela M
authors.initials: AM
authors.lastname: Kaindl
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003315:Cornea / Q000002:abnormalities*; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis* / Q000235:genetics*; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics*; D009896:Optic Atrophy / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D020692:rab3 GTP-Binding Proteins / Q000235:genetics*
chemical_list: C580955:RAB3GAP1 protein, human; D020692:rab3 GTP-Binding Proteins