Publications by authors named "Marta Kvasnicova"
A duplication dup(4)(q28q35.2) de novo in a newborn.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
July 2006
We report here a case of a newborn with hypotrophy and somatic stigmatization: microcephaly, facial dysmorphism, heart defect and immunodeficiency syndrome. The proband's karyotype was 46,XY,dup(4)(q28q35.2) de novo with chromosomal breaks in 4% of metaphases.
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- - The study focuses on how the CAG repeat expansion in the HD gene is the main cause of Huntington's disease (HD) and largely influences when the disease starts.
- - Researchers looked for genetic markers in several genes (GRIK2, TBP, BDNF, HIP1, and ZDHHC17) to see if they could affect the age of onset for HD by analyzing a group of 980 European patients.
- - Despite identifying some variations in the ZDHHC17 gene and others, the study concluded that none of these genes acted as significant genetic modifiers influencing the age at which Huntington's disease manifests.
An expanded polyglutamine stretch in the huntingtin protein has been identified as the pathogenetic cause of Huntington's disease (HD). Although the length of the expanded polyglutamine repeat is inversely correlated with the age-at-onset, additional genetic factors are thought to modify the variance in the disease onset. As linkage analysis suggested a modifier locus on chromosome 4p, we investigated the functional relevance of S18Y polymorphism of the ubiquitin carboxy-terminal hydrolase L1 in 946 Caucasian HD patients.
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