Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.

Purpose: The aim of this study was to determine the molecular genetic basis of an early-onset severe retinal dystrophy in three unrelated consecutive patients of Czech origin and to describe their ocular phenotype.

Methods: DNA samples from two probands were analyzed using a genotyping microarray (Asper) followed by either target analysis of 43 genes implicated in retinal disorders by next generation sequencing or whole-exome sequencing, respectively. The third proband underwent conventional Sanger sequencing of CRB1 based on her ocular findings.

[The molecular genetic and clinical findings in two probands with Stargardt disease].

Purpose: The aim of our study was to describe the phenotype and to perform molecular genetic investigation in two probands of Czech origin diagnosed with Stargardt disease (STGD).

Methods: Both males underwent ocular examination including assessment by high-resolution spectral domain optical coherence tomography (SD-OCT). DNA was isolated from venous blood.

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications.

Background: Inversions are balanced structural chromosome rearrangements, which can influence gene expression and the risk of unbalanced chromosome constitution in offspring. Many examples of inversion polymorphisms exist in human, affecting both heterochromatic regions and euchromatin.

Results: We describe a novel, 15 Mb long paracentric inversion, inv(21)(q21.

[Application of SNP array method in prenatal diagnosis].

Objectives: SNP array (array method using Single Nucleotide Polymorphisms) enables to detect cytogenetically undetectable submicroscopic alterations (microdeletions, microduplications), which could be also causative for ultrasonographic anomalies of fetus. This article describes the principle, advantages, disadvantages and application possibilities of the SNP array method in prenatal diagnosis. The ten month experience with SNP array use in prenatal diagnosis is presented.

[Autopsy and biopsy findings in disorders of mitochondrial beta-oxidation of fatty acids. Role of the pathologist in the diagnostic process].

Basic problems of the group of hereditary mitochondrial beta oxidation (BOX) disorders are presented with evaluation of the role of pathologists in the diagnostic process. The disorders manifest themselves clinically as usual by recurrent Reye-like episodes (acute hepatopathy and encephalopathy) typically in low age levels. Integral part of the clinical picture is often a myopathic symptomatology which at some cases may display even persisting character.