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A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
Guntram Borck1, Heidrun Wunram, Angela Steiert
1Institute of Human Genetics, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany. guntram.borck@uk-koeln.de
Human Genetics
|October 23, 2010
Summary
Mutations in RAB3GAP2 can cause Warburg Micro syndrome, a severe condition, or the milder Martsolf syndrome, depending on the mutation type. This expands the understanding of RAB3GAP-associated genetic disorders.
Area of Science:
- Genetics
- Ophthalmology
- Neurology
Background:
- Warburg Micro syndrome and Martsolf syndrome are overlapping autosomal recessive disorders.
- Both conditions present with congenital cataracts, microphthalmia, microcephaly, and developmental delay.
- Warburg Micro syndrome exhibits more severe neurodevelopmental and ophthalmological phenotypes than Martsolf syndrome.
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