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JOURNAL ARTICLE
Meng-Hua Li, I-Chieh Chen, Hui-Wen Yang, Hsin-Chien Yen, Yung-Chieh Huang, Chia-Chi Hsu, Yi-Ming Chen, Yu-Yuan Ke
Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical features of retinal dystrophy, obesity, postaxial polydactyly, renal anomalies, learning disabilities, hypogonadism, and genitourinary abnormalities. Nevertheless, previous studies on the phenotypic traits of BBS heterozygous carriers have generated inconclusive results. The aim of our study was to investigate the impact of BBS heterozygosity on carriers when compared to non-carriers within the Taiwanese population...
2024: International Journal of Medical Sciences
#2
JOURNAL ARTICLE
Yi Liu, Weili Wang, Xin Cui, Jian Lyu, Yanming Xie
BACKGROUND: Ischemic stroke (IS) is a major cause of disability and mortality worldwide. Increasing evidence suggests a strong association between blood pressure, blood glucose, circulating lipids, and IS. Nonetheless, the genetic association of these 3 risk factors with IS remains elusive. METHODS: We screened genetic instruments related to blood pressure, blood glucose, and circulating lipids and paired them with IS genome-wide association study data to conduct Mendelian randomization analysis...
April 9, 2024: Stroke; a Journal of Cerebral Circulation
#3
REVIEW
Princy S Quadros-Mennella, Kurt M Lucin, Robin E White
Stroke, resulting in hypoxia and glucose deprivation, is a leading cause of death and disability worldwide. Presently, there are no treatments that reduce neuronal damage and preserve function aside from tissue plasminogen activator administration and rehabilitation therapy. Interestingly, Drosophila melanogaster , the common fruit fly, demonstrates robust hypoxic tolerance, characterized by minimal effects on survival and motor function following systemic hypoxia. Due to its organized brain, conserved neurotransmitter systems, and genetic similarity to humans and other mammals, uncovering the mechanisms of Drosophila's tolerance could be a promising approach for the development of new therapeutics...
2024: Frontiers in Cellular Neuroscience
#4
Bin Ren, Xiaoyan Wu, Yuqiang Zhou, Lijuan Chen, Jingzi Jiang
The SYN1 gene encodes synapsin I, variants within the SYN1 gene are linked to X-linked neurodevelopmental disorders with high clinical heterogeneity, with reflex epilepsies (REs) being a representative clinical manifestation. This report analyzes a Chinese pedigree affected by seizures associated with SYN1 variants and explores the genotype-phenotype correlation. The proband, a 9-year-old boy, experienced seizures triggered by bathing at the age of 3, followed by recurrent absence seizures, behavioral issues, and learning difficulties...
2024: Frontiers in Neurology
#5
JOURNAL ARTICLE
Özden Öztürk, Haydar Bagis, Semih Bolu
Copy number variation in loss of 7q21 is a genetic disorder characterized by split hand/foot malformation, hearing loss, developmental delay, myoclonus, dystonia, joint laxity, and psychiatric disorders. Osteogenesis imperfecta caused by whole gene deletions of COL1A2 is a very rare condition. We report a Turkish girl with ectrodactyly, joint laxity, multiple bone fractures, blue sclera, early teeth decay, mild learning disability, and depression. A copy number variant in loss of 4.8 Mb at chromosome 7 (q21...
March 2024: Journal of Pediatric Genetics
#6
Jill Silverman, Timothy Fenton, Olivia Haouchine, Elizabeth Hallam, Emily Smith, Roy Ben-Shalom, Kiya Jackson, Cesar Canales, Alex Nord, Anna Adhikari, Darlene Rahbarian
Disruption of SYNGAP1 directly causes a genetically identifiable neurodevelopmental disorder (NDD) called SYNGAP1-related intellectual disability (SRID). Without functional SynGAP1 protein, individuals are developmentally delayed and have prominent features of intellectual disability, motor impairments, and epilepsy. Over the past two decades, there have been numerous discoveries indicting the critical role of Syngap1. Several rodent models with a loss of Syngap1 have been engineered identifying precise roles in neuronal structure and function, as well as key biochemical pathways key for synapse integrity...
March 19, 2024: Research Square
#7
JOURNAL ARTICLE
Maria I Bergamasco, Hannah K Vanyai, Alexandra L Garnham, Niall D Geoghegan, Adam P Vogel, Samantha Eccles, Kelly L Rogers, Gordon K Smyth, Marnie E Blewitt, Anthony J Hannan, Tim Thomas, Anne K Voss
Mutations in genes encoding chromatin modifiers are enriched among mutations causing intellectual disability. The continuing development of the brain postnatally, coupled with the inherent reversibility of chromatin modifications, may afford an opportunity for therapeutic intervention following a genetic diagnosis. Development of treatments requires an understanding of protein function and models of the disease. Here, we provide a mouse model of Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) (OMIM 603736) and demonstrate proof-of-principle efficacy of postnatal treatment...
April 1, 2024: Journal of Clinical Investigation
#8
JOURNAL ARTICLE
Allyson Corbo, Janice P Tzeng, Samantha Scott, Emily Cheves, Heidi Cope, Holly Peay
BACKGROUND: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Early Check, a voluntary newborn screening study, screened 18,833 newborns for FXS over ∼3 years. Exploring parental attitudes and perspectives can provide insight to the potential future acceptability of public health screening. METHODS AND PROCEDURES: Mothers of infants who received a screen positive result for FXS (n = 6) or fragile X premutation (FXPM; n = 18) were interviewed about their perceptions and experiences...
March 19, 2024: Research in Developmental Disabilities
#9
JOURNAL ARTICLE
Jiaxiang Wu, Jingliang Zhang, Xiaoling Chen, Kyle Wettschurack, Zhefu Que, Brody A Deming, Maria I Olivero-Acosta, Ningren Cui, Muriel Eaton, Yuanrui Zhao, Sophia M Li, Matthew Suzuki, Ian Chen, Tiange Xiao, Manasi S Halurkar, Purba Mandal, Chongli Yuan, Ranjie Xu, Wendy A Koss, Dongshu Du, Fuxue Chen, Long-Jun Wu, Yang Yang
Autism spectrum disorder (ASD) is a major neurodevelopmental disorder affecting 1 in 36 children in the United States. While neurons have been the focus of understanding ASD, an altered neuro-immune response in the brain may be closely associated with ASD, and a neuro-immune interaction could play a role in the disease progression. As the resident immune cells of the brain, microglia regulate brain development and homeostasis via core functions including phagocytosis of synapses. While ASD has been traditionally considered a polygenic disorder, recent large-scale human genetic studies have identified SCN2A deficiency as a leading monogenic cause of ASD and intellectual disability...
March 18, 2024: Molecular Psychiatry
#10
JOURNAL ARTICLE
Rivka Sukenik-Halevy, Nir Mevorach, Lina Basel-Salmon, Reut Tomashov Matar, Sarit Kahana, Kochav Klein, Ifaat Agmon-Fishman, Michal Levy, Idit Maya
INTRODUCTION: Microcephaly, characterized by abnormal head growth, can often serve as an initial indicator of congenital, genetic, or acquired disorders. In this study, we sought to evaluate the effectiveness of chromosomal microarray (CMA) testing in detecting abnormalities in both prenatal and postnatal cases of microcephaly. MATERIALS AND METHODS: CMA Testing: We conducted CMA testing on 87 prenatally-detected microcephaly cases and 742 postnatal cases at a single laboratory...
March 18, 2024: Archives of Gynecology and Obstetrics
#11
JOURNAL ARTICLE
Julien Hébert, Robert J De Santis, Lubna Daniyal, Shabber Mannan, Eduardo Ng, Emily Thain, Maria Carolina Sanabria-Salas, Raymond H Kim, Vera Bril, Aylin Y Reid
PURPOSE: Studies have shown an increased risk of epilepsy in patients with neurofibromatosis type 1 (NF1). However, most reports focus on the pediatric population. In this study, we describe the trajectory of patients with NF1 and epilepsy beyond childhood. METHODS: Patients with NF1 ≥18 years-old consecutively seen at a multidisciplinary neurofibromatosis clinic during a four-year period were prospectively enrolled and offered routine EEG, MRI, and genetic testing...
March 2, 2024: Epilepsy Research
#12
JOURNAL ARTICLE
Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant, Meena Upadhyaya
About 5-10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from homologous recombination between two low copy repeats. This "type-1" deletion is associated with a severe clinical phenotype in NF1 patients, with several phenotypic manifestations including learning disability, a much earlier development of cutaneous neurofibromas, an increased tumour risk, and cardiovascular malformations...
March 6, 2024: BMC Medical Genomics
#13
JOURNAL ARTICLE
Aneta Krakowski, Ny Hoang, Brett Trost, Jane Summers, Patricia Ambrozewicz, Jacob Vorstman
Many rare genetic variants are associated with the risk of atypical neurodevelopmental trajectories. In this study, we report a patient with developmental delay, autistic traits and multiple congenital anomalies, including congenital heart anomalies and orofacial cleft, with a 0.832 Mb de novo deletion of the 16p13.13 region classified as a variant of uncertain significance. Comparison of similar sized deletions and duplications overlapping the same genes in the DECIPHER database, revealed seven reports of copy number variants (CNVs), four duplications and three deletions...
February 28, 2024: BMJ Case Reports
#14
JOURNAL ARTICLE
Marie Massier, Martine Doco-Fenzy, Matthieu Egloff, Xavier Le Guillou, Gwenaël Le Guyader, Sylvia Redon, Caroline Benech, Karine Le Millier, Kevin Uguen, Juliette Ropars, Elise Sacaze, Séverine Audebert-Bellanger, Andreea Apetrei, Arnaud Molin, Nicolas Gruchy, Aline Vincent-Devulder, Marta Spodenkiewicz, Clémence Jacquin, Gauthier Loron, Marie Thibaud, Geoffroy Delplancq, Sophie Brisset, Marion Lesieur-Sebellin, Valérie Malan, Serge Romana, Marlène Rio, Sandrine Marlin, Jeanne Amiel, Valentine Marquet, Benjamin Dauriat, Kamran Moradkhani, Sandra Mercier, Bertrand Isidor, Stéphanie Arpin, Mathilde Pujalte, Guillaume Jedraszak, Céline Pebrel-Richard, Gaëlle Salaun, Fanny Laffargue, John Boudjarane, Chantal Missirian, Nora Chelloug, Annick Toutain, Jean Chiesa, Boris Keren, Cyril Mignot, Evan Gouy, Sylvie Jaillard, Emilie Landais, Céline Poirsier
Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). They have been associated with highly variable neurodevelopmental disorders (NDDs) with various associated features or reported as a susceptibility factor to the development of learning disabilities and neuropsychiatric disorders. The smallest region of overlap and the phenotype of 3q29 duplications remain uncertain. We here report a French cohort of 31 families with a 3q29 duplication identified by chromosomal microarray analysis (CMA), including 14 recurrent 1...
February 29, 2024: American Journal of Medical Genetics. Part A
#15
JOURNAL ARTICLE
Masoumeh Heidari Feizabadi, Masoome Alerasool, Atieh Eslahi, Emran Esmaeilzadeh, Mohammad Yahya Vahidi Mehrjardi, Mitra Saket, Shima Farokhi, Zohreh Fattahi, Hamid Reza Khorram Khorshid, Majid Mojarrad
Bardet-Biedl syndrome (BBS) is a rare inherited ciliopathy disorder characterized by a broad spectrum of clinical symptoms such as retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability, and hypogonadism. The understanding of the variants involved in BBS-causing genes remains incomplete, highlighting the need for further research to develop a molecular diagnostic strategy for this syndrome. Singleton whole-exome sequencing (WES) was performed on sixteen patients. Our study revealed (1) nine patients carried eight homozygous pathogenic variants with four of them being novel (2) Specifically, a synonymous splicing variant (c...
February 26, 2024: Biochemical Genetics
#16
JOURNAL ARTICLE
Elaine F Walker, Katrina Aberizk, Emerald Yuan, Zarina Bilgrami, Benson S Ku, Ryan M Guest
Research on serious mental disorders, particularly psychosis, has revealed highly variable symptom profiles and developmental trajectories prior to illness-onset. As Dante Cicchetti pointed out decades before the term "transdiagnostic" was widely used, the pathways to psychopathology emerge in a system involving equifinality and multifinality. Like most other psychological disorders, psychosis is associated with multiple domains of risk factors, both genetic and environmental, and there are many transdiagnostic developmental pathways that can lead to psychotic syndromes...
February 26, 2024: Development and Psychopathology
#17
JOURNAL ARTICLE
Michael E Msall
In 1969, my sister Christianne was born late preterm with a genetic disorder and given a very pessimistic prognosis. I will describe, from a family perspective, some lifecourse lessons about neurodiversity using the World Health Organization International Classification Model of Functioning (WHO-ICF). This model emphasizes that, in communicating about the complexity of outcomes of disability, attention must be paid to facilitators and barriers for optimizing health, functioning in daily life, and participation in the community...
January 26, 2024: Children
#18
REVIEW
Mina Grippa, Claudio Graziano
SOX proteins are transcription factors which play a role in regulating the development of progenitor cells and tissue differentiation. Twenty members are known, clustered in eight groups named A through H and sharing a common DNA-binding domain called the HMG (high-mobility-group) box. Eleven of the SOX genes have been associated with genetic disorders so far, covering a broad spectrum of developmental diseases. SOX4 is a single-exon gene and belongs to the SOXC group, together with SOX11 and SOX12 . SOX4 variants have been recently described to cause a highly penetrant but heterogeneous disorder, with a phenotypic spectrum ranging from mild developmental delays and learning difficulties to intellectual disabilities with congenital anomalies...
January 25, 2024: Genes
#19
JOURNAL ARTICLE
Marina Sanchez-Flores, Marc Corral-Juan, Esther Gasch-Navalón, Davide Cirillo, Ivelisse Sanchez, Antoni Matilla-Dueñas
Spinocerebellar ataxia subtype 37 (SCA37) is a rare disease originally identified in ataxia patients from the Iberian Peninsula with a pure cerebellar syndrome. SCA37 patients carry a pathogenic intronic (ATTTC)n repeat insertion flanked by two polymorphic (ATTTT)n repeats in the Disabled-1 (DAB1) gene leading to cerebellar dysregulation. Herein, we determine the precise configuration of the pathogenic 5'(ATTTT)n-(ATTTC)n-3'(ATTTT)n SCA37 alleles by CRISPR-Cas9 and long-read nanopore sequencing, reveal their epigenomic signatures in SCA37 lymphocytes, fibroblasts, and cerebellar samples, and establish new molecular and clinical correlations...
February 23, 2024: Human Genetics
#20
REVIEW
Dragana Protic, Randi Hagerman
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a full mutation (> 200 CGG repeats) in the FMR1 gene. FXS is the leading cause of inherited intellectual disabilities and the most commonly known genetic cause of autism spectrum disorder. Children with FXS experience behavioral and sleep problems, anxiety, inattention, learning difficulties, and speech and language delays. There are no approved medications for FXS; however, there are several interventions and treatments aimed at managing the symptoms and improving the quality of life of individuals with FXS...
February 22, 2024: Developmental Medicine and Child Neurology
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