Publications by authors named "Debra Rita"
Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulatory information to predict position effects and their association with pathogenic phenotypes in 17 subjects with apparently balanced chromosomal abnormalities. We found that the rearrangements predict disruption of long-range chromatin interactions between several enhancers and genes whose annotated clinical features are strongly associated with the subjects' phenotypes.
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- The study investigates balanced chromosomal abnormalities (BCAs) in 273 individuals with congenital anomalies using whole-genome sequencing to achieve higher resolution than traditional karyotyping.
- The findings revealed that 93% of karyotypes were revised, with 21% of BCAs showing complexity not detectable by standard methods, highlighting the limitations of cytogenetics.
- The research indicated that 33.9% of BCAs caused gene disruption tied to developmental issues, and some breakpoints affected crucial genomic regions, possibly worsening conditions like 5q14.3 microdeletion syndrome due to altered gene expression.
Rett syndrome (OMIM 312750) is a progressive, X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene located on chromosome Xq28. The disorder is characterized by a period of normal development during the first 6-18months of life, followed by gradual loss of skills already gained, such as speech and purposeful movement of the hands. The majority of cases are sporadic and represent "de novo" mutations.
View Article and Find Full Text PDFX-linked Recessive Chondrodysplasia Punctata (CDPX1) is due to a defect in arylsulfatase E (ARSE), located on Xp22.3. Neither the substrate nor function of the encoded warfarin-sensitive arylsulfatase has been identified and molecular analysis remains the only confirmatory diagnostic test.
View Article and Find Full Text PDFBackground: Delaying chromosome studies after transfusion is common practice in many neonatal intensive care units (NICUs). Yet, no evidence exists to support this practice.
Purpose: To investigate the effects of filtration and irradiation on chromosome detection, and to evaluate donor chromosome interference after transfusion.