Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#21
JOURNAL ARTICLE
Devis Pascut, Pablo J Giraudi, Cristina Banfi, Stefania Ghilardi, Claudio Tiribelli, Adele Bondesan, Diana Caroli, Alessandro Minocci, Graziano Grugni, Alessandro Sartorio
INTRODUCTION: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by loss of expression of paternal chromosome 15q11.2-q13 genes. Individuals with PWS exhibit unique physical, endocrine, and metabolic traits associated with severe obesity. Identifying liver steatosis in PWS is challenging, despite its lower prevalence compared to non-syndromic obesity. Reliable biomarkers are crucial for the early detection and management of this condition associated with the complex metabolic profile and cardiovascular risks in PWS...
2023: Frontiers in Endocrinology
#22
JOURNAL ARTICLE
Mark Ainsley Colijn, Christopher S Smith, Mary Ann Thomas
Maternal 15q11.2-q13.1 duplication syndrome is associated with a variety of developmental and neuropsychiatric abnormalities. Although schizophrenia-like presentations have been reported, details pertaining to the nature of the corresponding psychotic symptoms and their response to treatment have only been described in a few cases, and no reviews summarizing the literature currently exist. As such, we describe a new case of 15q11.2-q13.1 duplication syndrome-associated schizoaffective disorder and also performed a systematic review of the literature...
November 16, 2023: Psychiatric Genetics
#23
JOURNAL ARTICLE
Ayaka Yagasaki, Kiyofumi Mochizuki, Teiji Yagasaki, Hirokazu Sakaguchi
PURPOSE: To investigate the relationship between the details of strabismus and orbital abnormalities determined by ocular motility tests and orbital imaging examinations in 9 cases with Angelman syndrome (AS). STUDY DESIGN: A retrospective, clinical report. METHODS: The 9 AS cases (mean age at initial visit: 4.6 ± 8.0 years) were confirmed by genetic diagnosis of the chromosome 15q11-13 region. In all cases, axial imaging of the orbit in the transverse plane of the horizontal extraocular muscles was obtained...
January 2024: Japanese Journal of Ophthalmology
#24
REVIEW
Kinga Borowicz-Reutt, Julia Czernia, Marlena Krawczyk
Advanced identification of the gene mutations causing epilepsy syndromes is expected to translate into faster diagnosis and more effective treatment of these conditions. Over the last 5 years, approximately 40 clinical trials on the treatment of genetic epilepsies have been conducted. As a result, some medications that are not regular antiseizure drugs (e.g., soticlestat, fenfluramine, or ganaxolone) have been introduced to the treatment of drug-resistant seizures in Dravet, Lennox-Gastaut, maternally inherited chromosome 15q11...
November 14, 2023: International Journal of Molecular Sciences
#25
JOURNAL ARTICLE
Deirdre Leahy, Diego Marin, Jia Xu, Jennifer Eccles, Nathan R Treff
PURPOSE: This study aimed to evaluate whether a high-throughput high-resolution PGT-A method can detect copy number variants (CNVs) that could have clinical implications for patients and their embryos. METHODS: A prospective analysis of PGT-A cases was conducted using a high-resolution SNP microarray platform with over 820,000 probes. Cases where multiple embryos possessed the same segmental imbalance were identified, and preliminary PGT-A reports were issued recommending either parental microarray or conventional karyotyping to identify CNVs or translocations...
November 14, 2023: Journal of Assisted Reproduction and Genetics
#26
JOURNAL ARTICLE
Agung Triono, Kristy Iskandar, Marissa Leviani Hadiyanto, Andika Priamas Nugrahanto, Kania Diantika, Veronica Wulan Wijayanti, Elisabeth Siti Herini
BACKGROUND: Neurogenetic disorders (NGDs) are complex Mendelian disorders that affect the neurological system. A molecular diagnosis will provide more information about pathophysiology, prognosis, and therapy, including future genetic therapy options. Whole-Exome Sequencing (WES) can rapidly discover the genetic basis in NGDs. OBJECTIVE: The purpose of this study was to assess the WES results and its value in diagnosing pediatric NGDs, especially those with unspecified clinical features...
2023: PloS One
#27
JOURNAL ARTICLE
Karen G C B Bindels-de Heus, Doesjka A Hagenaar, Sabine E Mous, Ilonka Dekker, Daniëlle C M van der Kaay, Gerthe F Kerkhof, Ype Elgersma, Henriette A Moll, Marie-Claire Y de Wit
Angelman syndrome (AS) is a rare genetic disorder due to lack of UBE3A function on chromosome 15q11.2q13 caused by a deletion, uniparental paternal disomy (UPD), imprinting center disorder (ICD), or pathological variant of the UBE3A gene. AS is characterized by developmental delay, epilepsy, and lack of speech. Although fractures are observed frequently in our clinical practice, there are few studies on bone health in AS. The aim of this study is to investigate bone health in children with AS. In this prospective cohort study, we describe bone health in 91 children with AS visiting the ENCORE Expertise Center for AS between April 2010 and December 2021...
October 13, 2023: European Journal of Pediatrics
#28
REVIEW
Deborah K Sokol, Debomoy K Lahiri
Recent studies promote new interest in the intersectionality between autism spectrum disorder (ASD) and Alzheimer's Disease. We have reported high levels of Amyloid-β Precursor Protein (APP) and secreted APP-alpha (sAPP<mml:math xmlns:mml="https://www.w3.org/1998/Math/MathML"><mml:mi>a</mml:mi></mml:math>) and low levels of amyloid-beta (Aβ) peptides 1-40 and 1-42 (Aβ40, Aβ42) in plasma and brain tissue from children with ASD. A higher incidence of microcephaly (head circumference less than the 3rd percentile) associates with ASD compared to head size in individuals with typical development...
2023: Frontiers in Molecular Neuroscience
#29
REVIEW
Xia-Li Jiang, Bin Liang, Wan-Tong Zhao, Na Lin, Hai-Long Huang, Mei-Ying Cai, Liang-Pu Xu
OBJECTIVE: 15q11.2 microdeletion can lead to syndromes affecting the nervous system. However, 15q11.2 microdeletion has large phenotypic differences and incomplete penetrance, which brings challenges to prenatal diagnosis. We reported 21 cases of 15q11.2 microdeletion fetuses in Eastern China and reviewed literature on the prenatal clinical characteristics related to the deletion variants to provide a basis for prenatal genetic counseling. METHODS: The clinical data of 21 cases of 15q11...
December 2023: Journal of Maternal-fetal & Neonatal Medicine
#30
JOURNAL ARTICLE
Karen G C B Bindels-de Heus, Doesjka A Hagenaar, Ilonka Dekker, Danielle C M van der Kaay, Gerthe F Kerkhof, Encore Expertise Center For As, Ype Elgersma, Marie-Claire Y de Wit, Sabine E Mous, Henriette A Moll
Angelman Syndrome (AS) is a rare genetic disorder caused by lack of maternal UBE3A protein due to a deletion of the chromosome 15q11.2-q13 region, uniparental paternal disomy, imprinting center defect, or pathogenic variant in the UBE3A gene. Characteristics are developmental delay, epilepsy, behavioral, and sleep problems. There is some evidence for hyperphagia, shorter stature, and higher BMI compared to neurotypical children, but longitudinal studies on growth are lacking. In this study, we analyzed prospectively collected data of 145 children with AS, who visited the ENCORE Expertise Center between 2010 and 2021, with a total of 853 visits...
September 15, 2023: Journal of Clinical Medicine
#31
Molly M Crenshaw, Sharon L Graw, Dobromir Slavov, Theresa A Boyle, Daniel G Piqué, Matthew Taylor, Peter Baker
Loss of expression of paternally imprinted genes in the 15q11.2-q13 chromosomal region leads to the neurodevelopmental disorder Prader-Willi Syndrome (PWS). The PWS critical region contains four paternally expressed protein-coding genes along with small nucleolar RNA (snoRNA) genes under the control of the SNURF-SNRPN promoter, including the SNORD116 snoRNA gene cluster that is implicated in the PWS disease etiology. A 5-7 Mb deletion, maternal uniparental disomy, or an imprinting defect of chromosome 15q affect multiple genes in the PWS critical region, causing PWS...
2023: Case Reports in Genetics
#32
REVIEW
Kishor Gawade, Katarzyna D Raczynska
The 14q32.2 (DLK1-DIO3) and 15q11-q13 (SNURF-SNRPN) imprinted gene loci harbor the largest known small nucleolar RNA clusters expressed from the respective maternal and paternal alleles. Recent studies have demonstrated significant roles for the 15q11-q13 located SNORD115-SNORD116 C/D box snoRNAs in Prader-Willi syndrome (PWS), a neurodevelopmental disorder. Even though the effect of SNORD116 deletion is apparent in the PWS phenotype, similar effects of a SNORD113-SNORD114 cluster deletion from the 14q32.2 locus in Kagami-Ogata syndrome (KOS14) and upregulation in Temple syndrome (TS14) remain to be explored...
September 18, 2023: Wiley Interdisciplinary Reviews. RNA
#33
JOURNAL ARTICLE
Vittoria Mariano, Alexandros K Kanellopoulos, Carlotta Ricci, Daniele Di Marino, Sarah C Borrie, Sebastian Dupraz, Frank Bradke, Tilmann Achsel, Eric Legius, Sylvie Odent, Pierre Billuart, Thierry Bienvenu, Claudia Bagni
BACKGROUND: 15q11.2 Deletions and duplications have been linked to autism spectrum disorder (ASD), schizophrenia, and intellectual disability (ID). Recent evidence suggests that dysfunctional Cytoplasmic FMR1 Interacting Protein 1 (CYFIP1) contributes to the clinical phenotypes observed in individuals with 15q11.2 deletion/duplication syndrome. CYFIP1 plays crucial roles in neuronal development and brain connectivity, promoting actin polymerization and regulating local protein synthesis...
September 11, 2023: Biological Psychiatry
#34
JOURNAL ARTICLE
Emily A Huth, Xiaonan Zhao, Nichole Owen, Pamela N Luna, Ida Vogel, Inger L H Dorf, Shelagh Joss, Jill Clayton-Smith, Michael J Parker, Jacoba J Louw, Marc Gewillig, Jeroen Breckpot, Alison Kraus, Erina Sasaki, Usha Kini, Trent Burgess, Tiong Y Tan, Ruth Armstrong, Katherine Neas, Giovanni B Ferrero, Alfredo Brusco, Wihelmina S Kerstjens-Frederikse, Julia Rankin, Lindsey R Helvaty, Benjamin J Landis, Gabrielle C Geddes, Kim L McBride, Stephanie M Ware, Chad A Shaw, Seema R Lalani, Jill A Rosenfeld, Daryl A Scott
Anomalous pulmonary venous return (APVR) frequently occurs with other congenital heart defects (CHDs) or extra-cardiac anomalies. While some genetic causes have been identified, the optimal approach to genetic testing in individuals with APVR remains uncertain, and the etiology of most cases of APVR is unclear. Here, we analyzed molecular data from 49 individuals to determine the diagnostic yield of clinical exome sequencing (ES) for non-isolated APVR. A definitive or probable diagnosis was made for 8 of those individuals yielding a diagnostic efficacy rate of 16...
September 7, 2023: European Journal of Human Genetics: EJHG
#35
JOURNAL ARTICLE
Rune Boen, Tobias Kaufmann, Dennis van der Meer, Oleksandr Frei, Ingrid Agartz, David Ames, Micael Andersson, Nicola J Armstrong, Eric Artiges, Joshua R Atkins, Jochen Bauer, Francesco Benedetti, Dorret I Boomsma, Henry Brodaty, Katharina Brosch, Randy L Buckner, Murray J Cairns, Vince Calhoun, Svenja Caspers, Sven Cichon, Aiden P Corvin, Benedicto Crespo Facorro, Udo Dannlowski, Friederike S David, Eco J C de Geus, Greig I de Zubicaray, Sylvane Desrivières, Joanne L Doherty, Gary Donohoe, Stefan Ehrlich, Else Eising, Thomas Espeseth, Simon E Fisher, Andreas J Forstner, Lidia Fortaner Uyà, Vincent Frouin, Masaki Fukunaga, Tian Ge, David C Glahn, Janik Goltermann, Hans J Grabe, Melissa J Green, Nynke A Groenewold, Dominik Grotegerd, Tim Hahn, Ryota Hashimoto, Jayne Y Hehir-Kwa, Frans A Henskens, Avram J Holmes, Asta K Haberg, Jan Haavik, Sebastien Jacquemont, Andreas Jansen, Christiane Jockwitz, Erik G Jonsson, Masataka Kikuchi, Tilo Kircher, Kuldeep Kumar, Stephanie Le Hellard, Costin Leu, David E Linden, Jingyu Liu, Robert Loughnan, Karen A Mather, Katie L McMahon, Allan F McRae, Sarah E Medland, Susanne Meinert, Clara A Moreau, Derek W Morris, Bryan J Mowry, Thomas W Muhleisen, Igor Nenadić, Markus M Nöthen, Lars Nyberg, Michael J Owen, Marco Paolini, Tomas Paus, Zdenka Pausova, Karin Persson, Yann Quidé, Tiago Reis Marques, Perminder S Sachdev, Sigrid B Sando, Ulrich Schall, Rodney J Scott, Geir Selbæk, Elena Shumskaya, Ana I Silva, Sanjay M Sisodiya, Frederike Stein, Dan J Stein, Benjamin Straube, Fabian Streit, Lachlan T Strike, Alexander Teumer, Lea Teutenberg, Anbupalam Thalamuthu, Paul A Tooney, Diana Tordesillas-Gutierrez, Julian N Trollor, Dennis van 't Ent, Marianne B M van den Bree, Neeltje E M van Haren, Javier Vazquez-Bourgon, Henry Volzke, Wei Wen, Katharina Wittfeld, Christopher R K Ching, Lars T Westlye, Paul M Thompson, Carrie E Bearden, Kaja K Selmer, Dag Alnæs, Ole A Andreassen, Ida E Sonderby
BACKGROUND: The 1q21.1 distal and 15q11.2 BP1-BP2 CNVs exhibit regional and global brain differences compared to non-carriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intra-individual variability measures can be used to test for regional differences beyond global differences in brain structure. METHODS: Magnetic resonance imaging data were used to obtain regional brain values for 1q21...
September 1, 2023: Biological Psychiatry
#36
JOURNAL ARTICLE
Sheng Li, Mingxia Xie, Echo Xu, Yinxing Zhang
Unbalanced chromosome abnormalities (UBCA) are large genomic region variations that often result in minimal clinical effects. Copy number variants (CNVs), such as microdeletions and microduplications in 15q11.2, have been linked to various health issues, making prenatal diagnosis and genetic counselling challenging. Microdeletions and microduplications in the genomic region 15q11.2 are associated with congenital heart defects, autism, schizophrenia, epilepsy, mental retardation and developmental delay. The literature on this microduplication is confusing and extensive, which is a great difficulty for prenatal diagnosis and genetic counselling...
August 25, 2023: Alternative Therapies in Health and Medicine
#37
JOURNAL ARTICLE
Carolina Maya-González, Sandra Wessman, Kristina Lagerstedt-Robinson, Fulya Taylan, Bianca Tesi, Ekaterina Kuchinskaya, W Glenn McCluggage, Anna Poluha, Stefan Holm, Ricard Nergårdh, Teresita Díaz De Ståhl, Charlotte Höybye, Giorgio Tettamanti, Angelica Maria Delgado-Vega, Anna Skarin Nordenvall, Ann Nordgren
Prader-Willi syndrome (PWS) is a rare disease caused by a lack of expression of inherited imprinted genes in the paternally derived Prader-Willi critical region on chromosome 15q11.2-q13. It is characterized by poor feeding and hypotonia in infancy, intellectual disability, behavioral abnormalities, dysmorphic features, short stature, obesity, and hypogonadism. PWS is not a known cancer predisposition syndrome, but previous investigations regarding the prevalence of cancer in these patients suggest an increased risk of developing specific cancer types such as myeloid leukemia and testicular cancer...
2023: Frontiers in Medicine
#38
JOURNAL ARTICLE
Steven D Sheridan, Joy E Horng, Hana Yeh, Liam McCrea, Jennifer Wang, Ting Fu, Roy H Perlis
BACKGROUND: The CYFIP1 gene, located in the neurodevelopmental risk locus 15q11.2, is highly expressed in microglia, but its role in human microglial function as it relates to neurodevelopment is not well understood. METHODS: We generated multiple CRISPR knockouts of CYFIP1 in patient-derived models of microglia to characterize function and phenotype. Using microglia-like cells reprogrammed from peripheral blood mononuclear cells, we quantified phagocytosis of synaptosomes (isolated and purified synaptic vesicles) from human iPSC-derived neuronal cultures as an in vitro model of synaptic pruning...
August 10, 2023: Biological Psychiatry
#39
JOURNAL ARTICLE
Ludovica Montanucci, David Lewis-Smith, Ryan L Collins, Lisa-Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H Thomas, Michael Talkowski, Ingo Helbig, Costin Leu, Dennis Lal
Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26...
July 20, 2023: Nature Communications
#40
JOURNAL ARTICLE
Kuldeep Kumar, Claudia Modenato, Clara Moreau, Christopher R K Ching, Annabelle Harvey, Sandra Martin-Brevet, Guillaume Huguet, Martineau Jean-Louis, Elise Douard, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Anne M Maillard, Borja Rodriguez-Herreros, Aurélie Pain, Leila Kushan, Dmitry Isaev, Kathryn Alpert, Anjani Ragothaman, Jessica A Turner, Lei Wang, Tiffany C Ho, Lianne Schmaal, Ana I Silva, Marianne B M van den Bree, David E J Linden, Michael J Owen, Jeremy Hall, Sarah Lippé, Guillaume Dumas, Bogdan Draganski, Boris A Gutman, Ida E Sønderby, Ole A Andreassen, Laura M Schultz, Laura Almasy, David C Glahn, Carrie E Bearden, Paul M Thompson, Sébastien Jacquemont
OBJECTIVE: Copy number variants (CNVs) are well-known genetic pleiotropic risk factors for multiple neurodevelopmental and psychiatric disorders (NPDs), including autism (ASD) and schizophrenia. Little is known about how different CNVs conferring risk for the same condition may affect subcortical brain structures and how these alterations relate to the level of disease risk conferred by CNVs. To fill this gap, the authors investigated gross volume, vertex-level thickness, and surface maps of subcortical structures in 11 CNVs and six NPDs...
September 1, 2023: American Journal of Psychiatry
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
