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Michael B Fernando, Yu Fan, Yanchun Zhang, Sarah Kammourh, Aleta N Murphy, Sadaf Ghorbani, Ryan Onatzevitch, Adriana Pero, Christopher Padilla, Lei Cao, Sarah Williams, Gang Fang, Paul A Slesinger, Kristen J Brennand
As genetic studies continue to identify risk loci that are significantly associated with risk for neuropsychiatric disease, a critical unanswered question is the extent to which diverse mutations--sometimes impacting the same gene--will require common or individually tailored therapeutic strategies. Here we consider this in the context of rare, heterozygous, and non-recurrent copy number variants (2p16.3) linked to a variety of neuropsychiatric disorders that impact NRXN1 , a pre-synaptic cell adhesion protein that serves as a critical synaptic organizer in the brain...
October 28, 2023: bioRxiv
#2
JOURNAL ARTICLE
Khuen Foong Ng, Anu Goenka, Florence Manyika, Jolanta Bernatoniene
BACKGROUND: Disorders of immunity are poorly recognised in some rare multisystem genetic conditions. We aim to describe syndromic features and immunological defects in children with syndromic primary immunodeficiencies (sPIDs). METHODS: This is a retrospective descriptive study of children aged 0-18 years with sPIDs under the care of the paediatric immunology service at the Bristol Royal Hospital for Children, United Kingdom, from January 2006 to September 2021...
July 28, 2023: Journal of Clinical Medicine
#3
JOURNAL ARTICLE
Rebecca Sebastian, Kang Jin, Narciso Pavon, Ruby Bansal, Andrew Potter, Yoonjae Song, Juliana Babu, Rafael Gabriel, Yubing Sun, Bruce Aronow, ChangHui Pak
De novo mutations and copy number deletions in NRXN1 (2p16.3) pose a significant risk for schizophrenia (SCZ). It is unclear how NRXN1 deletions impact cortical development in a cell type-specific manner and disease background modulates these phenotypes. Here, we leveraged human pluripotent stem cell-derived forebrain organoid models carrying NRXN1 heterozygous deletions in isogenic and SCZ patient genetic backgrounds and conducted single-cell transcriptomic analysis over the course of brain organoid development from 3 weeks to 3...
June 24, 2023: Nature Communications
#4
JOURNAL ARTICLE
Zheng Jiao, Tingting Song, Ying Xu, Jia Li, Pengfei Liu, Jiangfang Zhang, Hong Yang
OBJECTIVES: The corpus callosum is the main pathway that connects interhemispheric communication. Agenesis of corpus callosum (ACC) have not consistently detected replicate genetic risk factors, potentially due to Etiological heterogeneity of this trait. This study aimed to retrospectively analyze the molecular basis for the ACC and the potential genotyping-phenotyping association and provide the basis for genetic counselling. MATERIAL AND METHODS: Karyotyping and chromosomal microarray analysis were performed for copy number variants...
May 10, 2023: Ginekologia Polska
#5
JOURNAL ARTICLE
Ping Tang, Xiaoying Jin, Jiarui Li, Liyan Zhang, Yuan Li, Shengfeng Xu
RATIONALE: Placental mesenchymal dysplasia (PMD) is a rare placental disease frequently associated with severe maternal and/or fetal complications. Its sonographic appearance is very similar to that of a hydatidiform mole. Hence, PMD is easily misdiagnosed as a hydatidiform mole. In this study, we reported the clinical features of PMD and analyzed its relationship to other severe maternal and/or fetal complications. PATIENT CONCERNS: A 28-year-old female, gravida 2, para 1, was referred to our maternal and child health hospital at 15 weeks + 2 days due to an ultrasonic diagnosis of partial hydatidiform mole...
April 14, 2023: Medicine (Baltimore)
#6
JOURNAL ARTICLE
Antonio Benítez-Burraco, M Salud Jiménez-Romero, Maite Fernández-Urquiza
INTRODUCTION: Copy-number variations (CNVs) impacting on small DNA stretches and associated with language deficits provide a unique window to the role played by specific genes in language function. METHODS: We report in detail on the cognitive, language, and genetic features of a girl bearing a small deletion (0.186 Mb) in the 2p16.3 region, arr[hg19] 2p16.3(50761778_50947729)×1, affecting exons 3-7 of NRXN1 , a neurexin-coding gene previously related to schizophrenia, autism (ASD), attention deficit hyperactivity disorder (ADHD), mood disorder, and intellectual disability (ID)...
January 2023: Molecular Syndromology
#7
JOURNAL ARTICLE
Lixia Wang, Panlai Shi, Hua'nan Ren, Shuyuan Xue, Xiangdong Kong
OBJECTIVE: To summarize the genetic diagnosis, low-depth copy number variation sequencing (CNV-seq) and prenatal finding in 7 fetuses with 2p16.3 deletions only involving the NRXN1 gene. METHODS: The 7 fetuses have all been found to have loss of heterozygosity at 2p16.3 by CNV-seq, which were verified by quantitative real-time PCR (qPCR). Specific regions of NRXN1 gene deletions were identified, and the CNVs were verified in their parents. Outcome of the pregnancies were followed up...
November 10, 2022: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#8
Monica Sciacca, Lidia Marino, Giovanna Vitaliti, Raffaele Falsaperla, Silvia Marino
In the literature, deletions in the 2p16.3 region of the neurexin gene (NRXN1) are associated with cognitive impairment, and other neuropsychiatric disorders, such as schizophrenia, autism, and Pitt-Hopkins-like syndrome 2. In this paper, we present twins with deletion 2p16.3 of the NRXN1 gene using a comparative genomic hybridization array. The two children had a dual diagnosis consisting of mild cognitive impairment and neurodevelopmental delay. Furthermore, they showed a dysmorphic phenotype characterized by facio-cranial disproportion, turricephalus, macrocrania, macrosomia, strabismus, and abnormal conformation of both auricles with low implantation...
May 10, 2022: Children
#9
JOURNAL ARTICLE
Rebecca B Hughes, Jayde Whittingham-Dowd, Steven J Clapcote, Susan J Broughton, Neil Dawson
2p16.3 deletion, involving NEUREXIN1 (NRXN1) heterozygous deletion, substantially increases the risk of developing autism and other neurodevelopmental disorders. We have a poor understanding of how NRXN1 heterozygosity impacts on brain function and cognition to increase the risk of developing the disorder. Here we characterize the impact of Nrxn1α heterozygosity on cerebral metabolism, in mice, using 14 C-2-deoxyglucose imaging. We also assess performance in an olfactory-based discrimination and reversal learning (OB-DaRL) task and locomotor activity...
February 10, 2022: Autism Research: Official Journal of the International Society for Autism Research
#10
JOURNAL ARTICLE
Shin Ito, Aya Hashimoto, Kazunori Yamaguchi, Sadafumi Kawamura, Shingo Myoen, Maki Ogawa, Ikuro Sato, Takamichi Minato, Shingo Miyabe, Akira Nakazato, Keitaro Fujii, Mai Mochizuki, Haruna Fujimori, Keiichi Tamai, Tetsuya Niihori, Yoko Aoki, Akira Sugawara, Hironobu Sasano, Hiroshi Shima, Jun Yasuda
Carney complex (CNC) is a rare hereditary syndrome that involves endocrine dysfunction and the development of various types of tumors. Chromosome 2p16 and PRKAR1A on chromosome 17 are known susceptibility loci for CNC. Here we report a mother and son with CNC caused by an 8.57-kb deletion involving the transcription start site and non-coding exon 1 of PRKAR1A. The proband is a 28-year-old male with bilateral large-cell calcified Sertoli cell testicular tumors and pituitary adenoma. Comprehensive genomic profiling for cancer mutations using Foundation One CDx failed to detect any mutations in PRKAR1A in DNA from the testicular tumor...
March 2022: Molecular Genetics & Genomic Medicine
#11
Paolo Fontana, Laura Bernardini, Cinzia Lombardi, Maria Grazia Giuffrida, Maria Ciavarella, Anna Capalbo, Marianna Maioli, Francesca Scarano, Giuseppina Cantalupo, Mariateresa Falco, Gioacchino Scarano, Fortunato Lonardo
Inverted duplications deletions are rare, complex, and nonrecurrent chromosomal rearrangements associated with a variable phenotype. In this case report, we described the phenotype and genotype of a 14-week-old male fetus, who was aborted after discovery of multiple anomalies (septal cystic hygroma, open abdominal wall, and a nonidentifiable lower limb). At autopsy, fluorescence in situ hybridization and array comparative genomic hybridization identified an inverted duplication with terminal deletion of 4p [46,XY,der(4)del(p16...
September 2021: Journal of Pediatric Genetics
#12
JOURNAL ARTICLE
Soichiro Natsume, Tatsuro Yamaguchi, Hidetaka Eguchi, Yasushi Okazaki, Shin-Ichiro Horiguchi, Hideyuki Ishida
We identified a Japanese patient with Lynch syndrome with a novel large germline deletion of chromosome 2p16-21, including the EPCAM, MSH2, and KCNK12 genes. The proband was a 46-year-old man with ascending colon cancer. The clinical significance of germline KCNK12 gene deletion, which encodes one of the subfamilies of two-pore-domain potassium channels, is still unknown.
May 19, 2021: Human Genome Variation
#13
JOURNAL ARTICLE
N van Engelen, F van Dijk, E Waanders, A Buijs, M A Vermeulen, J L C Loeffen, R P Kuiper, M C J Jongmans
We describe a case of a boy with neurodevelopmental delay and a diffuse large B-cell lymphoma (DLBCL) in whom we discovered a germline de novo 2p16.3 deletion including MSH6 and part of the FBXO11 gene. A causative role for MSH6 in cancer development was excluded based on tumor characteristics. The constitutional FBXO11 deletion explains the neurodevelopmental delay in the patient. The FBXO11 protein is involved in BCL-6 ubiquitination and BCL-6 is required for the germinal center reaction resulting in B cell differentiation...
April 3, 2021: Familial Cancer
#14
JOURNAL ARTICLE
Daisuke Fukushi, Mie Inaba, Kimiko Katoh, Yasuyo Suzuki, Yasushi Enokido, Noriko Nomura, Yoshihito Tokita, Shin Hayashi, Seiji Mizuno, Kenichiro Yamada, Nobuaki Wakamatsu
R3HDM1 (R3H domain containing 1) is an uncharacterized RNA-binding protein that is highly expressed in the human cerebral cortex. We report the first case of a 12-year-old Japanese male with haploinsufficiency of R3HDM1. He presented with mild intellectual disability (ID) and developmental delay. He had a pericentric inversion of 46,XY,inv(2)(p16.1q21.3)dn with breakpoints in intron 19 of R3HDM1 (2q21.3) and the intergenic region (2p16.1). The R3HDM1 levels in his lymphoblastoid cells were reduced to approximately half that of the healthy controls...
March 22, 2021: American Journal of Medical Genetics. Part A
#15
JOURNAL ARTICLE
Diana C Dima, Rachael Adams, Stefanie C Linden, Alister Baird, Jacqueline Smith, Sonya Foley, Gavin Perry, Bethany C Routley, Lorenzo Magazzini, Mark Drakesmith, Nigel Williams, Joanne Doherty, Marianne B M van den Bree, Michael J Owen, Jeremy Hall, David E J Linden, Krish D Singh
Rare copy number variants associated with increased risk for neurodevelopmental and psychiatric disorders (referred to as ND-CNVs) are characterized by heterogeneous phenotypes thought to share a considerable degree of overlap. Altered neural integration has often been linked to psychopathology and is a candidate marker for potential convergent mechanisms through which ND-CNVs modify risk; however, the rarity of ND-CNVs means that few studies have assessed their neural correlates. Here, we used magnetoencephalography (MEG) to investigate resting-state oscillatory connectivity in a cohort of 42 adults with ND-CNVs, including deletions or duplications at 22q11...
September 21, 2020: Translational Psychiatry
#16
JOURNAL ARTICLE
Paolo Alfieri, Francesco Scibelli, Lorenzo Sinibaldi, Giovanni Valeri, Cristina Caciolo, Roberta Lucia Novello, Antonio Novelli, Maria Cristina Digilio, Marco Tartaglia, Stefano Vicari
Increasing evidence links heterozygosity for NRXN1 gene deletions to a clinically wide spectrum of neurodevelopmental, psychiatric, and neurological disorders. However, to date, the neurocognitive and social communication features of children carrying this genomic rearrangement have not been assessed in detail. The cognitive and behavioral profiles of five children carrying a heterozygous NRXN1 deletion were investigated through systematic assessment of the cognitive and developmental levels, adaptive profile and presence of behavioral symptoms and autistic features...
September 2020: Genes, Brain, and Behavior
#17
JOURNAL ARTICLE
Han Zhang, Qi Xi, Xiangyin Liu, Fagui Yue, Hongguo Zhang, Meiling Sun, Ruizhi Liu
Chromosomal rearrangements, such as duplications/deletions, can lead to a variety of genetic disorders. Herein, we reported a prenatal case with right aortic arch and aberrant left subclavian artery, consisting of a complex chromosomal copy number variations. Routine cytogenetic analysis described the chromosomal karyotype as 46,XY, add (2)(q37) for the fetus. However, the chromosomal microarray analysis (CMA) identified a 22.4 Mb duplication in chromosome 4p16.3p15.2, a 3.96 Mb microduplication in 12p11...
2020: BioMed Research International
#18
JOURNAL ARTICLE
Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.
Lamia Alsubaie, Taghrid Aloraini, Manal Amoudi, Abdulrahman Swaid, Wafaa Eyiad, Fuad Al Mutairi, Farouq Ababneh, Muhammad Talal Alrifai, Duaa Baarmah, Waleed Altwaijri, Naser Alotaibi, Ashraf Harthi, Ahmad Rumayyan, Ali Alanazi, Mohammad Qrimli, Majid Alfadhel, Ahmed Alfares
INTRODUCTION: Currently, next-generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS technology benefited some clinical phenotypes, for some clinical diagnoses such as seizures and epileptic disorders, adaptation occurred slowly. The genetic diagnosis was mainly based on epilepsy gene panels and not on whole exome and/or genome sequencing. METHOD: We retrospectively analyzed 420 index cases, referred for NGS over a period of 18 months, to investigate the challenges in diagnosing epilepsy...
November 2020: Annals of Human Genetics
#19
JOURNAL ARTICLE
Rebecca B Hughes, Jayde Whittingham-Dowd, Rachel E Simmons, Steven J Clapcote, Susan J Broughton, Neil Dawson
2p16.3 deletions, involving heterozygous NEUREXIN1 (NRXN1) deletion, dramatically increase the risk of developing neurodevelopmental disorders, including autism and schizophrenia. We have little understanding of how NRXN1 heterozygosity increases the risk of developing these disorders, particularly in terms of the impact on brain and neurotransmitter system function and brain network connectivity. Thus, here we characterize cerebral metabolism and functional brain network connectivity in Nrxn1α heterozygous mice (Nrxn1α+/- mice), and assess the impact of ketamine and dextro-amphetamine on cerebral metabolism in these animals...
April 14, 2020: Cerebral Cortex
#20
JOURNAL ARTICLE
Joan Enric Ramis-Zaldivar, Blanca Gonzalez-Farré, Olga Balagué, Verónica Celis, Ferran Nadeu, Julia Salmerón-Villalobos, Mara Andrés, Idoia Martin-Guerrero, Marta Garrido-Pontnou, Ayman Gaafar, Mariona Suñol, Carmen Bárcena, Federico Garcia-Bragado, Maitane Andión, Daniel Azorín, Itziar Astigarraga, Maria Sagaseta de Ilurdoz, Constantino Sábado, Soledad Gallego, Jaime Verdú-Amorós, Rafael Fernandez-Delgado, Vanesa Perez, Gustavo Tapia, Anna Mozos, Montserrat Torrent, Palma Solano-Páez, Alfredo Rivas-Delgado, Ivan Dlouhy, Guillem Clot, Anna Enjuanes, Armando López-Guillermo, Pallavi Galera, Matthew J Oberley, Alanna Maguire, Colleen Ramsower, Lisa M Rimsza, Leticia Quintanilla-Martinez, Elaine S Jaffe, Elías Campo, Itziar Salaverria
Pediatric large B-cell lymphomas (LBCLs) share morphological and phenotypic features with adult types but have better prognosis. The higher frequency of some subtypes such as LBCL with IRF4 rearrangement (LBCL-IRF4) in children suggests that some age-related biological differences may exist. To characterize the genetic and molecular heterogeneity of these tumors, we studied 31 diffuse LBCLs (DLBCLs), not otherwise specified (NOS); 20 LBCL-IRF4 cases; and 12 cases of high-grade B-cell lymphoma (HGBCL), NOS in patients ≤25 years using an integrated approach, including targeted gene sequencing, copy-number arrays, and gene expression profiling...
January 23, 2020: Blood
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