Review
Genetics & Heredity
C. Ejerskov, M. Raundahl, P. A. Gregersen, M. M. Handrup
Summary: Patients with mosaic NF1 should be followed up according to the standard NF1 guideline due to the potential development of plexiform neurofibromas and other NF1-associated complications. There is a need for an international consensus on diagnostic criteria for mosaic NF1 and further studies in larger cohorts to develop a specific follow-up guideline.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Genetics & Heredity
Laurence Pacot, Valerie Pelletier, Albain Chansavang, Audrey Briand-Suleau, Cyril Burin des Roziers, Audrey Coustier, Theodora Maillard, Nicolas Vaucouleur, Lucie Orhant, Cecile Barbance, Alban Lermine, Nadim Hamzaoui, Djihad Hadjadj, Ingrid Laurendeau, Laila El Khattabi, Juliette Nectoux, Michel Vidaud, Beatrice Parfait, Helene Dollfus, Eric Pasmant, Dominique Vidaud
Summary: This case report highlights the importance of whole genome sequencing (WGS) in diagnosing patients with neurofibromatosis type 1 (NF1). WGS can detect structural variants, including copy number variants, that may be missed by other methods. By detecting the pathogenic variant in the cell-free DNA of the patient's pregnant partner, targeted genetic counseling and non-invasive prenatal diagnosis were made possible.
Article
Genetics & Heredity
Silvia Radenkovic, Diego Martinelli, Yuebo Zhang, Graeme J. Preston, Arianna Maiorana, Alessandra Terracciano, Maria Lisa Dentici, Elisa Pisaneschi, Antonio Novelli, Wasantha Ranatunga, Anna N. Ligezka, Bart Ghesquiere, David R. Deyle, Tamas Kozicz, Filippo Pinto e Vairo, Peter Witters, Eva Morava
Summary: This study identified associations between TRAPPC9 deficiency and intellectual disability, dysmorphic features, and abnormal glycosylation, suggesting that TRAPPC9 deficiency may lead to a congenital disorder of glycosylation (CDG). These findings are highly relevant for diagnosis, further elucidation of the pathophysiology, and management of the disease.
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Jonathan C. Andrews, Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia Tifft, Ellen F. Macnamara, Bianca E. Russell, Lee-kai Wang, Stanley F. Nelson, Hugo J. Bellen, Shinya Yamamoto, May Christine V. Malicdan, Michael F. Wangler
Summary: This study identified two novel variants (p.R104G and p.A91P) in MRTFB that are associated with neurodevelopmental disorders in children. These variants lead to changes in the regulation of MRTFB protein, potentially impacting embryonic development and neural function.
GENETICS IN MEDICINE
(2023)
Article
Genetics & Heredity
Ignacio Arroyo Carrera, Miguel Fernandez-Burriel, Pablo Lapunzina, Jair Antonio Tenorio, Veronica Deyanira Garcia Navas, Elena Marquez Isidro
Summary: Missense and frameshift pathogenic variants, as well as microdeletions involving the TBL1XR1 gene, have been linked to intellectual disability, autism, Rett-like features, and schizophrenia in patients. This case report describes a novel missense variant in the TBL1XR1 gene associated with overlapping features of Pierpont syndrome and autism, expanding the phenotypic spectrum of pathogenic variants in this gene.
Article
Genetics & Heredity
Ewelina Wolanska, Agnieszka Pollak, Malgorzata Rydzanicz, Karolina Pesz, Magdalena Klaniewska, Anna Rozensztrauch, Pawel Skiba, Piotr Stawinski, Rafal Ploski, Robert Smigiel
Summary: The main symptoms of dysmorphic syndrome associated with intergenic deletion in the Xq24 chromosome region include psychomotor delay, hypotonia, and intellectual disability, as well as heart defects, urogenital malformations, and characteristic cranio-facial dysmorphism. Limited information is available in the literature regarding the symptoms and clinical course of the Xq24 deletion, and a case of a nine-year-old boy with this deletion involving the UBE2A and CXorf56 genes was presented in this report. The deletion of 35kb in the Xq24 region, including the UBE2A and CXorf56 genes, was revealed through array comparative genomic hybridization (array-CGH) and whole exome sequencing (WES) tests.
Article
Geriatrics & Gerontology
Matthew J. Miller, Irena Cenzer, Deborah E. Barnes, Kenneth E. Covinsky
Summary: Physical inactivity is prevalent among 56% of older adults with CIND, with factors associated with higher risk including self-rated health, difficulty walking, total assets, and education attainment. Among physically inactive CIND patients, 61% are estimated to be capable of greater MVPA. Developing tailored physical activity interventions for this population may lead to improved cognitive, health, and quality of life outcomes.
AGING CLINICAL AND EXPERIMENTAL RESEARCH
(2022)
Article
Genetics & Heredity
Xiangrong Cui, Xueqing Wu, Hongwei Wang, Sanyuan Zhang, Wei Wang, Xuan Jing
Summary: This study reports a case of a mother and son with a CDK13 variant, exhibiting typical facial features and intellectual developmental disorder. It is the first reported case of an adult patient transmitting the CDK13 variant to the next generation. The inheritance of the disease was successfully blocked through preimplantation genetic testing.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Genetics & Heredity
Pietro Palumbo, Ester Di Muro, Maria Accadia, Mario Benvenuto, Marilena Carmela Di Giacomo, Stefano Castellana, Tommaso Mazza, Marco Castori, Orazio Palumbo, Massimo Carella
Summary: Neurodevelopmental disorders (NDDs) are a group of disorders affecting children, with AUTS2 gene being one of the implicated genes. This study presents a case of a 9-year-old boy carrying a deletion mutation in AUTS2, expanding the understanding of its pathogenic variants.
Article
Genetics & Heredity
Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, Eric Vilain, Vandana Shashi
Summary: Optical genome mapping (OGM) is an effective technology for detecting disease-causing structural variants, especially mosaic variants, which are challenging to detect with current NGS technologies and chromosomal microarrays. Further research in undiagnosed populations using OGM is warranted to explore its full potential.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Psychology, Experimental
Moira R. Dillon
Summary: Children's drawings show a preference for depicting small-scale objects over large layout geometry, suggesting a distinction between intuitive geometries of layouts and objects in young children's representations.
JOURNAL OF EXPERIMENTAL PSYCHOLOGY-GENERAL
(2021)
Article
Neurosciences
Ayland C. Letsinger, Samir A. Nacer, Korey D. Stevanovic, Gary J. Larson, Jemma S. Defilipp, Jesse D. Cushman, Jerrel L. Yakel
Summary: The α7 nAChR plays a critical role in hippocampal development and has a sex-dependent impact on cognitive function.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Education, Special
C. Klaiman, S. P. White, C. Saulnier, M. Murphy, L. Burrell, J. Cubells, E. Walker, J. G. Mulle
Summary: This study aims to outline the strengths and weaknesses of individuals with 3q29 deletion syndrome and explore the impact of the deletion on other domains of psychopathology. The results show that two-thirds of individuals with the deletion have strong verbal abilities but deficits in non-verbal reasoning, and cognitive ability is not a strong indicator of other neurodevelopmental or psychiatric impairment.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2022)
Article
Clinical Neurology
Benjamin Cretin, Olivier Bousiges, Geoffroy Hautecloque, Nathalie Philippi, Frederic Blanc, Laure Dibitonto, Catherine Martin-Hunyadi, Francois Sellal
Summary: In prodromal Alzheimer's disease patients, there is a correlation between epilepsy and CSF biomarkers, white matter hyperintensities, and electro-radiological features. However, CSF analysis may not be a diagnostic test for epilepsy in these patients.
FRONTIERS IN NEUROLOGY
(2021)
Article
Linguistics
Michelle L. Luna, Catherine M. Sandhofer
Summary: This study aimed to investigate the impact of predictive cues on attention in 3-year-old children, and found that when predictive cues were present in a categorization task, children were more likely to choose words matching the texture.
JOURNAL OF MEMORY AND LANGUAGE
(2021)
