32 research outputs found
Sporadic imprinting defects in Prader-Willi-Syndrome and Angelman-Syndrome - implications for imprint-switch models, genetic counseling, and prenatal diagnosis
No full textKarin Buiting, Bärbel Dittrich, Stephanie Groß, Christina Lich, Claudia Färber, Tina Buchholz, Ellie Smith, André Reis, Joachim Bürger, Markus M. Nöthen, Ulli Barth-Witte, Bart Janssen, Dvorah Abeliovich, Israela Lerer, Ans M.W. van den Ouweland, Dicky J.J. Halley, Connie Schrander-Stumpel, Hubert Smeets, Peter Meinecke, Sue Malcolm, Anne Gardner, Marc Lalande, Robert D. Nicholls, Kathie Friend, Astrid Schulze, Gert Matthijs, Hannaleena Kokkonen, Pascale Hilbert, Lionel Van Maldergem, Guillermo Glover, Pablo Carbonell, Patrick Willems, Gabriele Gillessen-Kaesbach, Bernhard Horsthemk
The 28-kb Deletion Spanning D15S63 Is a Polymorphic Variant in the Ashkenazi Jewish Population
No full textD15S63 is one of the loci, on chromosome 15q11-q13, that exhibit parent-of-origin dependent methylation and that is commonly used in the diagnosis of Prader-Willi or Angelman syndromes (PWS/AS). A 28-kb deletion spanning the D15S63 locus was identified in five unrelated patients; in each of them the deletion was inherited from a normal parent. Three of the five families segregating the deletion were reported to be of Jewish Ashkenazi ancestry, and in the other two families the ancestral origin was unknown. To determine whether the 28-kb deletion is a benign variant, we screened for the deletion in 137 unselected Ashkenazi individuals and in 268 patients who were referred for molecular diagnosis of PWS/AS, of whom 89 were Ashkenazi and 47 were of mixed origin (Ashkenazi and non-Ashkenazi Jews). In the control group, three individuals were carriers of the deletion; among the patients, three were carriers, all of whom were Ashkenazi Jews. There was no significant difference between the control group and the Ashkenazi patients, indicating that the deletion is not a cause of PWS- and AS-like syndromes. The frequency of the 28-kb deletion in the Ashkenazi population was 1/75. Since methylation analysis at the D15S63 locus may lead to misdiagnosis, we suggest the use of SNRPN, either in a PCR-based assay or as a probe in Southern hybridization, as the method of choice in the diagnosis of PWS/AS
Machado-Joseph Disease: Correlation between the Clinical Features, the CAG Repeat Length and Homozygosity for the Mutation
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RAMAN SPECTRAL SIGNATURES AS CONFORMATIONAL PROBES OF BIOMOLECULES
No full textAuthor Institution: Department of Physics, Ben-Gurion University, Beer Sheva 84105, IsraelA first application of ionization-loss stimulated Raman spectroscopy (ILSRS) for monitoring the spectral features of four conformers of a gas phase neurotransmitter (2-phenylethylamine) is reported. The Raman spectra of the conformers show bands that uniquely identify the conformational structure of the molecule and are well matched by density functional theory calculations. The measurement of spectral signatures by ILSRS in an extended spectral range, with a relatively convenient laser source, is extremely important, allowing enhanced accessibility to intra- and inter-molecular forces, which are significant in biological structure and activity
Simultaneous Formation of inv dup(15) and dup(15q) in a Girl with Developmental Delay: Origin of the Abnormal Chromosomes
No full textThe Jewish Ashkenazi Founder Mutations in the BRCA1/BRCA2 Genes Are Not Found at an Increased Frequency in Ashkenazi Patients with Prostate Cancer
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Detection of aberrant DNA methylation in unique Prader — Willi syndrome patients and its diagnostic implications
No full textMost patients with Prader - Willi syndrome have a deletion of 15q11 - 13 or maternal uniparental disomy for chromosome 15. The shortest region of deletion overlap is presently defined by the gene for the small nuclear ribonucleoprotein N (SNRPN). We have investigated the integrity of SNRPN as well as the methylation status of D15S63 (PW71) in two patients with apparently normal chromosomes 15 of biparental origin. SNRPN is normal in one patient and deleted in the other one. Both patients are intact at the D15S63 locus, but have an abnormal methylation pattern. These results suggest that a DNA sequence close to SNRPN determines the methylation status of D15S63 and that the methylation test does not only detect the common deletions and uniparental disomy, but other rare lesions as wel
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies
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