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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
TLDR
It is found that the presence of epilepsy, which manifested before the age of 3 years in the majority of patients, was associated with worse motor outcomes and the relationship between disease severity as measured by several rating scales and disease duration.
The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis
TLDR
The methylation defect is considered to be a potential cause of ASD, due to the depletion of purine, and consequently S-adenosyl methionine (SAM) biosynthesis, biosynthesis.
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature
TLDR
Observations indicate that for the assessment of prognosis, especially with respect to intellectual functioning, the level of mosaicism could be more important than the extent of amplification and the number of extra copies.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
TLDR
The spectrum of disease phenotypes associated with COL2A1 or COL11A1 variants continues to expand and includes typical STL and various bone dysplasias, but also nonsyndromic hearing impairment, isolated myopia with or without retinal detachment, and STL phenotype without clinically detectable ocular pathology.
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers
TLDR
This work illustrates the effectiveness of FISH on 4 prenatally identified de novo mosaic sSMCs derived from chromosomes 13/21, X, 3, and 17, and shows no abnormality till the last examination at the age of 4 years.
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1.
TLDR
Spectral domain optical coherence tomography (SD-OCT) showed a loss of photoreceptors throughout the macular area, except for the foveolar region, clearly confirming a diagnosis of Usher syndrome type 1.
Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity
TLDR
A genetically confirmed dia­gnosis of STL facilitates early treatment, prevention, and an accurate genetic risk estimation of STL in the family.