Angelman syndrome (AS) is one of the common genetic disorders that could emerge either from a 15q11-q13 deletion or paternal uniparental disomy (UPD) or imprinting or UBE3A mutations. AS comes with various behavioral and phenotypic variability, but the acquisition of subjects for experiment and automating the landmarking process to characterize facial morphology for Angelman syndrome variation investigation are common challenges. By automatically detecting and annotating subject faces, we collected 83 landmarks and 10 anthropometric linear distances were measured from 17 selected anatomical landmarks to account for shape variability. Statistical analyses were performed on the extracted data to investigate facial variation in each age group. There is a correspondence in the results achieved by relative warp (RW) of the principal component (PC) and the thin-plate spline (TPS) interpolation. The group is highly discriminated and the pattern of shape variability is higher in children than other groups when judged by the anthropometric measurement and principal component.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8531312 | PMC |
| http://dx.doi.org/10.1038/s41598-021-99944-z | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).
J Assist Reprod Genet
December 2024
Department of Human Genetic, Altamedica, Rome, Italy.
Purpose: Uniparental disomy (UPD) is a genetic condition which both copies of a chromosome are inherited from a single parent, potentially leading to imprinting disorders. This study aimed to assess the integration of Short Tandem Repeat (STR) analysis into Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) to assess UPD risk and its impact on selecting euploid embryos for embryo transfer in couples with chromosomal translocations involving imprinted chromosomes.
Methods: This study evaluated three couples carrying balanced chromosomal translocations: 45,XX,der(13;14)(q10;q10), 46,XX,t(10;11)(q22;q13), and 45,XY,der(14;15)(q10;q10).
Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022).
Am J Med Genet A
December 2024
COMBINEDBrain, Brentwood, Tennessee, USA.
Article Synopsis
- Angelman syndrome (AS) is a rare genetic disorder impacting neurodevelopment, with an estimated prevalence of 1 in 20,000, but lacks comprehensive data on life expectancy and death rates due to a lack of diagnostic codes until 2018.
- A social media initiative by AS caregivers gathered data on 220 deaths, revealing respiratory illness as the leading cause, followed by accidents and seizures, with sudden unexpected death in sleep (SUDS) also being a notable concern.
- The study found that 91% of individuals with AS have epilepsy, suggesting that some SUDS cases could relate to sudden unexpected deaths in epilepsy (SUDEP), and highlights the need for more research despite limitations
CaMKIIα hub ligands are unable to reverse known phenotypes in Angelman syndrome mice.
Basic Clin Pharmacol Toxicol
January 2025
Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Angelman Syndrome (AS) is a neurodevelopmental disorder caused by the loss of function of ubiquitin-protein ligase E3A (UBE3A), resulting in marked changes in synaptic plasticity. In AS mice, a dysregulation of Ca/calmodulin-dependent protein kinase II alpha (CaMKIIα) was previously described. This has been convincingly validated through genetic rescue of prominent phenotypes in mouse cross-breeding experiments.
View Article and Find Full Text PDFSurgical Treatment of Strabismus in Children With Developmental Delay: A Review of the Literature and Results of Personal Experience.
J Pediatr Ophthalmol Strabismus
December 2024
Purpose: To review the current literature, to provide a foundation of knowledge on strabismus surgery in patients with developmental delay, and to present results from the authors' personal experience.
Methods: The following terms were searched on PubMed: strabismus surgery, mental delay, developmental delay, Down syndrome, Angelman syndrome, cerebral palsy, hydrocephalus, Williams syndrome, fragile X syndrome, and fetal alcohol syndrome. Surgical outcomes were analyzed and discussed; only English articles were included.
The Breastfeeding Experiences of Mother-Infant Dyads and the Effects of an FMR1 Mutation.
J Autism Dev Disord
November 2024
RTI International, Genomics and Translational Research Center, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle Park, NC, 27709, USA.
Article Synopsis
- * Data was gathered through a national survey involving 246 mothers, revealing that breastfeeding duration was typically longer for unaffected infants compared to those with FXS, especially among infants of mothers with postpartum depression.
- * About 42% of mothers with infants with FXS reported breastfeeding difficulties, primarily due to the child's perceived challenges, while the main reason for stopping among unaffected infants was personal choice, suggesting that infants with FXS have unique early needs that may benefit from targeted interventions.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!