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Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
It is often associated with hypermetropia, colobomas of the iris, cataracts, persistent hyperplastic primary vitreous, retinopathy of prematurity, angle closure glaucoma, infantile glaucoma and chronic open angle glaucoma. Systemic associations include Ehlers–Danlos syndrome, Marfan syndrome, Rieger syndrome, Norrie syndrome, Trisomy 21 (Down syndrome), progeria, rubella, Turner syndrome, Waardenburg syndrome, Weil–Marchesani syndrome, Warburg micro syndrome, cataract microcornea syndrome and acroreno-ocular syndrome.
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
Published in Ophthalmic Genetics, 2018
Warburg Micro Syndrome (MIM 600118, 614225, 615222, 615663) is a extremely rare autosomal recessive disease characterized by congenital cataract, microcornea, microphtalmia, microcephaly, severe mental retardation, developmental delay, structural brain anomalies, spasticity leading to contracture and hypothalamic hypogonadism. In addition, patients present large and asymmetric ears, low anterior hairline, hypotonia, minimal to absent speech and overlapping toe. Warburg Micro syndrome was first described in a Pakistani family in 1993 (1). This syndrome characterized by a mutation of RAB3GAP1 gene on chromosome 2q21.3, RAB3GAP2 gene on chromosome 1q41, RAB18 gene on chromosome10p21.1 and TBC1D20 gene on chromosome 20p13 (2,3). To date, more than 70 human Rab proteins (which apply to the Ras family of small G proteins) have been identified and they are regulators of exocytosis of hormones and brain neurotransmitter. Rab3 proteins are essential for functional brain and eye development. The task of this protein family is to participate in neurodevelopmental transaction like differentiation, migration and reproduction (4). The mutations observed in RAB3GAP1 and RAB3GAP2 are the most common cause of Warburg Micro syndrome. RAB3GAP alters active Rab3-GTP to the inactive -GDP form . RAB3GAP1 composes the heterodimeric complex RAB3GAP along with RAB3GAP2. RAB3GAP1 is the catalytic subunit of this complex, while RAB3GAP2 is the non-catalytic unit. RAB3GAP2 is a 35 exon gene that codifies 1393 amino acid protein (5). Approximately, 150 families of the Warburg Micro syndrome and about less than 100 mutations have been identified to date. Most of mutations are associated with RAB3GAP1 (http://www.hgmd.org).