Publications by authors named "R L Tinker"
Article Synopsis
- RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
- The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
- Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
Background: The number of known inherited metabolic diseases (IMDs) has been expanding, and the rate of diagnosis is improving with the development of innovative approaches including next generation sequencing (NGS). However, a substantial proportion of IMDs remain undetected by traditional diagnostic approaches. We aim to highlight the spectrum of IMDs diagnosed by the Undiagnosed Diseases Network (UDN) and to learn from the UDN diagnostic processes that were able to detect IMDs.
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- Genetic mosaicism refers to the existence of multiple cell types with different genetic makeups originating from a single fertilized egg, impacting various genetic diseases.
- It can lead to a range of outcomes, from severe disorders that are typically fatal in non-mosaic forms to conditions with minor effects, which may still pose risks for passing on harmful genotypes.
- The article will explore the different manifestations of mosaic genetic disease and review current methods of detection and its prevalence in the population.
Article Synopsis
- Autosomal dominant congenital disorder of glycosylation (CDG) type Iw is caused by a mutation in a specific gene and differs from most CDGs, which are typically autosomal recessive.
- A 17-year-old male presented with a range of symptoms including macrocephaly, epilepsy, and developmental delays, but initial genetic tests and biochemical analyses did not indicate a clear diagnosis.
- Genome sequencing revealed a novel mutation that disrupts a glycosylation site, and the patient was ultimately diagnosed with CDG type Iw based on abnormal transferrin profiling, illustrating the variability in genetic disorders and the need for comprehensive testing.
Article Synopsis
- * The Undiagnosed Diseases Network (UDN) aims to improve diagnosis rates and research participation among these groups, but a review of 2235 participants shows underrepresentation of Hispanic and Black non-Hispanic individuals compared to the broader U.S. population.
- * Diagnosis rates varied by ethnicity, with higher rates for Asian non-Hispanic (39.5%) and Hispanic (35.3%) groups, while White non-Hispanic participants had the lowest at 26.8%; however, differences in diagnostic yields were not significant when controlling for factors like age and disease phenotype. *