Dmitriy Niyazov

Oldest reported patients with RAB18 deficiency due to RAB3GAP1 gene mutations · March 14, 2024 - March 14, 2024 National Scientific Meeting Homozygous and compound heterozygous pathogenic variants in RAB3GAP1 gene are implicated in autosomal recessive Warburg micro syndrome 1 (WARBM) including developmental delay, intellectual disability, dysmorphic facial features, brain anomalies, hypermobile joints and kyphoscoliosis along with ophthalmologic, neurologic and endocrine abnormalities. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea, small atonic pupils, progressive optic atrophy and cortical visual impairment. Due to the advanced genetic testing such as Whole Exome Sequencing (WES) it is possible to diagnose patients in advanced ages after a long diagnostic odyssey. We report the oldest patients ever described with RAB18 deficiency and the benefits of precise diagnosis in management even at an advanced age.

Genetic Testing in 2024: Overview and Clinical Applications - Pediatric Grand Rounds · February 13, 2024 Invited Talk Duke Pediatrics, DUH 1. Outline transformation of Genetic Testing over time.
2. Review different types of Genetic Testing and their clinical relevance.
3. Recognize the benefits and pitfalls of Genetic Testing in clinical use.

Clinical Summary

I see patients with genetic disorders in ambulatory and inpatient settings.