Article
Biochemistry & Molecular Biology
Lucia Pia Bruno, Gabriella Doddato, Floriana Valentino, Margherita Baldassarri, Rossella Tita, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Alessandra Fabbiani, Vittoria Lamacchia, Anna Carrer, Valentina Caputo, Stefania Granata, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani
Summary: Intelectual disability (ID) and autism spectrum disorder (ASD) are often associated and characterized by impairments in cognitive processes and daily life tasks. Molecular diagnosis is crucial for improving prognosis and initiating treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Bo Yuan, Mengdi Wang, Xinran Wu, Peipei Cheng, Ran Zhang, Shunying Yu, Jie Zhang, Yasong Du, Xiaoqun Wang, Zilong Qiu
Summary: In this study, whole-exome sequencing was used to examine Chinese individuals with autism spectrum disorder (ASD) and their parents. The researchers identified a large number of de novo mutations and copy number variations related to ASD. They also found that genes with these de novo mutations were specifically expressed in certain regions of the human brain, and that ASD patients had structural and functional abnormalities in these brain regions.
NEUROSCIENCE BULLETIN
(2023)
Article
Genetics & Heredity
Namshin Kim, Kyoung Hyoun Kim, Won-Jun Lim, Jiwoong Kim, Soon Ae Kim, Hee Jeong Yoo
Summary: This study aimed to identify genetic risk factors of ASD through rare de novo variants using whole exome sequencing and genetic network analyses in Korean familial dataset. It identified 36 de novo variants potentially related to ASD, with interactions between variants commonly observed in NF-kappa B signaling pathway. The small cohort size may affect results, but the study provides insights into novel ASD genes.
Article
Genetics & Heredity
Rotem Tal-Ben Ishay, Apurba Shil, Shirley Solomon, Noa Sadigurschi, Hadeel Abu-Kaf, Gal Meiri, Hagit Flusser, Analya Michaelovski, Ilan Dinstein, Hava Golan, Nadav Davidovitch, Idan Menashe
Summary: WES is an effective approach to identify the susceptibility of genetic variants of autism spectrum disorder (ASD). This study applied WES to a population-based sample of Bedouin and Jewish children with ASD in southern Israel, and found a diagnostic yield of 15.4%. The most cost-effective genetic testing method was chromosomal microarray analysis (CMA).
Article
Clinical Neurology
Frenny Sheth, Jhanvi Shah, Deepika Jain, Siddharth Shah, Harshkumar Patel, Ketan Patel, Dhaval Solanki, Anand S. Iyer, Bhargavi Menghani, Priti Mhatre, Sanjiv Mehta, Shruti Bajaj, Vishal Patel, Manoj Pandya, Deepak Dhami, Darshan Patel, Jayesh Sheth, Harsh Sheth
Summary: This study aimed to explore the genetic architecture of autism spectrum disorder (ASD) in India and assess the use of whole exome sequencing (WES) as a first-tier test for genetic diagnosis. The study found that de novo variants are a major cause of ASD in the Indian population, with Rett syndrome being the most commonly detected disorder. Moreover, WES demonstrated a significantly higher diagnostic yield (30%) compared to chromosomal microarray (CMA) (3%), supporting the implementation of WES as the preferred genetic diagnostic tool for ASD in India.
Article
Health Care Sciences & Services
Jeffery L. Clothier, Amy N. Grooms, Patricia A. Porter-Gill, Pritmohinder S. Gill, G. Bradley Schaefer
Summary: This study reports a case of a 32-year-old male patient who was diagnosed with Cornelia De Lange Syndrome (CDLS) in infancy and later with autism and intellectual disability. Genetic and methylation studies identified a de novo variant in the DCAF1 gene, which is associated with autism and intellectual disability. This study provides new insights into the genetic basis of ASD.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Neurosciences
Floriana Valentino, Lucia Pia Bruno, Gabriella Doddato, Annarita Giliberti, Rossella Tita, Sara Resciniti, Chiara Fallerini, Mirella Bruttini, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Francesca Mari, Anna Maria Pinto, Francesca Fava, Margherita Baldassarri, Alessandra Fabbiani, Vittoria Lamacchia, Elisa Benetti, Kristina Zguro, Simone Furini, Alessandra Renieri, Francesca Ariani
Summary: This study utilized exome sequencing to identify a high rate of pathogenic variants in a cohort of 200 patients, with some genes responsible for established genetic syndromes and new candidate genes discovered. The results highlight the importance of exome sequencing in the diagnosis of ID/ASD.
Article
Pediatrics
Yingmei Xie, Hui Wang, Bing Hu, Xueli Zhang, Aiping Liu, Chunquan Cai, Shijun Li, Cheng Chen, Zhangxing Wang, Zhaoqing Yin, Mingbang Wang
Summary: Autism spectrum disorder (ASD) affects around 1% of children with no effective blood test or cure. Recent studies have suggested that ASD is a neurological disorder with a strong genetic basis and abnormal formation of dendritic spines. Chromosome microarray (CMA) and whole-exome sequencing (WES) were used to identify new candidate genes for ASD. The study identified a de novo variant in the CTTNBP2 gene, which is associated with dendritic spine formation and provides genetic evidence for ASD spine pathology.
Article
Education, Special
Watfa Al-Mamari, Ahmed B. Idris, Khalid Al-Thihli, Reem Abdulrahim, Saquib Jalees, Muna Al-Jabri, Ahlam Gabr, Fathiya Al Murshedi, Adila Al Kindy, Intisar Al-Hadabi, Zandre Bruwer, M. Mazharul Islam, Abeer Alsayegh
Summary: This study aimed to assess the impact of clinical and demographic variables on the diagnostic yield of WES in children with ASD from a consanguineous population. The study found that the diagnostic yield of WES in ASD cases was 34%, and children with seizures were more likely to have positive results.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES
(2023)
Article
Genetics & Heredity
Ana Arteche-Lopez, Maria Jose Gomez Rodriguez, Maria Teresa Sanchez Calvin, Juan Francisco Quesada-Espinosa, Jose Miguel Lezana Rosales, Carmen Palma Milla, Irene Gomez-Manjon, Irene Hidalgo Mayoral, Ruben Perez de la Fuente, Arancha Diaz de Bustamante, Maria Teresa Darnaude, Belen Gil-Fournier, Soraya Ramiro Leon, Patricia Ramos Gomez, Olalla Sierra Tomillo, Alexandra Juarez Rufian, Maria Isabel Arranz Cano, Rebeca Villares Alonso, Pablo Morales-Perez, Alejandro Segura-Tudela, Ana Camacho, Noemi Nunez, Rogelio Simon, Marta Moreno-Garcia, Maria Isabel Alvarez-Mora
Summary: The study compared the clinical utility of CMA, FMR1 testing, and/or WES in 343 ASD patients, finding a higher diagnostic power of WES compared to CMA in the study of ASD. The results support the implementation of WES as a first-tier test for the genetic diagnosis of ASD.
Article
Genetics & Heredity
Takuya Hiraide, Kaori Yamoto, Yohei Masunaga, Miki Asahina, Yusaku Endoh, Yumiko Ohkubo, Tomoko Matsubayashi, Satoshi Tsurui, Hidetaka Yamada, Kumiko Yanagi, Mitsuko Nakashima, Kouichi Hirano, Haruhiko Sugimura, Tokiko Fukuda, Tsutomu Ogata, Hirotomo Saitsu
Summary: Whole-exome sequencing (WES) was performed on 101 Japanese patients with unexplained developmental delay (DD) or intellectual disability (ID), leading to the identification of pathogenic variants, including copy number variants (CNVs) and somatic variants. The presence of autism spectrum disorder and external ear anomalies was associated with the detection of pathogenic variants, highlighting the importance of genetic testing in patients with these conditions.
Article
Genetics & Heredity
Alessia Azzara, Roberto Rumore, Fulvia Brugnoletti, Elisabetta Tabolacci, Irene Bottillo, Eugenio Sangiorgi, Fiorella Gurrieri
Summary: Asperger syndrome is a pervasive developmental disorder characterized by impaired socialization, stereotypical behavior, and defective social adaptation. Genetic background is important in the development of Asperger syndrome, and a mutation in the RADX gene may play a role as a predisposing factor. The RADX gene encodes a DNA binding factor involved in genome maintenance and its mutation could disrupt neural genes related to cell adhesion and migration.
Article
Oncology
Lucas W. Thornblade, Paul Wong, Daneng Li, Susanne G. Warner, Sue Chang, Mustafa Raoof, Jonathan Kessler, Arya Amini, James Lin, Vincent Chung, Gagandeep Singh, Yuman Fong, Laleh G. Melstrom
Summary: Cholangiocarcinomas are rare cancers with potentially targetable mutations, and a third of patients undergoing resection in the past decade have had tumor genomic profiling, with 89% harboring targetable mutations. While targeted therapies were identified in most sequenced tumors, only 4% of patients received these therapies, highlighting the potential for precision medicine in the future care of cholangiocarcinoma.
Review
Medicine, General & Internal
Carla Lintas, Roberto Sacco, Alessia Azzara, Ilaria Cassano, Fiorella Gurrieri
Summary: The advancement of NGS technologies has significantly improved ASD genetic diagnosis, leading to the discovery of many new causative genes. A recent study revealed 30 novel genes, with 6 of them providing important clinical and molecular data that can aid clinical geneticists in prioritizing and interpreting genetic tests. This new information may help in associating genetic test results with phenotypes for making a final diagnosis.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Clinical Neurology
Olivia J. Veatch, Diego R. Mazzotti, Robert T. Schultz, Ted Abel, Jacob J. Michaelson, Edward S. Brodkin, Birkan Tunc, Susan G. Assouline, Thomas Nickl-Jockschat, Beth A. Malow, James S. Sutcliffe, Allan Pack
Summary: By analyzing genetic variations associated with autism spectrum disorder (ASD) and sleep disturbances, this study found that individuals with ASD who accumulate potentially damaging genetic variants are more likely to experience sleep duration problems. Specifically, dysfunction in the development of the cerebral cortex may disrupt sleep homeostasis, which is regulated by this brain region.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2022)
Article
Biochemistry & Molecular Biology
R. E. Frye, J. Slattery, L. Delhey, B. Furgerson, T. Strickland, M. Tippett, A. Sailey, R. Wynne, S. Rose, S. Melnyk, S. Jill James, J. M. Sequeira, E. V. Quadros
MOLECULAR PSYCHIATRY
(2018)
Article
Psychiatry
Shannon Rose, Sirish C. Bennuri, Jakeira E. Davis, Rebecca Wynne, John C. Slattery, Marie Tippett, Leanna Delhey, Stephan Melnyk, Stephen G. Kahler, Derrick F. MacFabe, Richard E. Frye
TRANSLATIONAL PSYCHIATRY
(2018)
Review
Genetics & Heredity
Shannon Rose, Dmitriy M. Niyazov, Daniel A. Rossignol, Michael Goldenthal, Stephen G. Kahler, Richard E. Frye
MOLECULAR DIAGNOSIS & THERAPY
(2018)
Article
Psychiatry
Harumi Jyonouchi, Lee Geng, Shannon Rose, Sirish C. Bennuri, Richard E. Frye
FRONTIERS IN PSYCHIATRY
(2019)
Article
Psychiatry
Sirish C. Bennuri, Shannon Rose, Richard E. Frye
FRONTIERS IN PSYCHIATRY
(2019)
Article
Endocrinology & Metabolism
Shannon Rose, Eugenia Carvalho, Eva C. Diaz, Matthew Cotter, Sirish C. Bennuri, Gohar Azhar, Richard E. Frye, Sean H. Adams, Elisabet Borsheim
AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM
(2019)
Article
Psychiatry
Terry Harville, Bobbie Rhodes-Clark, Sirish C. Bennuri, Leanna Delhey, John Slattery, Marie Tippett, Rebecca Wynne, Shannon Rose, Stephen Kahler, Richard E. Frye
FRONTIERS IN PSYCHIATRY
(2019)
Article
Psychiatry
Harumi Jyonouchi, Lee Geng, Gokce A. Toruner, Shannon Rose, Sirish C. Bennuri, Richard E. Frye
FRONTIERS IN PSYCHIATRY
(2019)
Article
Multidisciplinary Sciences
Irene Voinsky, Sirish C. Bennuri, Julie Svigals, Richard E. Frye, Shannon Rose, David Gurwitz
SCIENTIFIC REPORTS
(2019)
Article
Psychiatry
Richard E. Frye, Janet Cakir, Shannon Rose, Leanna Delhey, Sirish C. Bennuri, Marie Tippett, Raymond F. Palmer, Christine Austin, Paul Curtin, Manish Arora
TRANSLATIONAL PSYCHIATRY
(2020)
Article
Biochemistry & Molecular Biology
Richard E. Frye, Janet Cakir, Shannon Rose, Leanna Delhey, Sirish C. Bennuri, Marie Tippett, Stepan Melnyk, S. Jill James, Raymond F. Palmer, Christine Austin, Paul Curtin, Manish Arora
Summary: By investigating the role of mitochondria in the influence of prenatal air pollution exposure on neurodevelopment and behavior in children with ASD, it was found that mitochondrial respiration is influenced by PM2.5 exposure during childhood, with varying effects on children with and without NDR. Mitochondrial respiration linked to energy production accounted for a portion of the effect of average prenatal PM2.5 exposure on neurodevelopment and behavioral symptoms. Structural equation models estimated that PM2.5 and mitochondrial respiration contribute to the effect on neurodevelopment, while behavior is directly influenced by prenatal PM2.5 exposure.
MOLECULAR PSYCHIATRY
(2021)
Article
Cell Biology
Pedro Barbosa, Stepan Melnyk, Sirish C. Bennuri, Leanna Delhey, Andreia Reis, Gabriela R. Moura, Elisabet Borsheim, Shannon Rose, Eugenia Carvalho
Summary: The study revealed novel metabolic alterations in the transmethylation and transsulfuration pathways in prepubertal children with obesity, as well as early changes in adipocyte secretory function. These findings may serve as early metabolic markers of disease in this population.
OXIDATIVE MEDICINE AND CELLULAR LONGEVITY
(2021)
Article
Biochemistry & Molecular Biology
Irena Voinsky, Yazeed Zoabi, Noam Shomron, Moria Harel, Hanoch Cassuto, Joseph Tam, Shannon Rose, Adrienne C. Scheck, Mohammad A. Karim, Richard E. Frye, Adi Aran, David Gurwitz
Summary: Mutations in over 100 genes are found to be associated with autism spectrum disorder (ASD). This study revealed differential expression of certain genes in ASD children, suggesting their potential involvement in ASD pathogenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, Research & Experimental
Diana Santos, Patricia Porter-Gill, Grace Goode, Leanna Delhey, Anja Elaine Sorensen, Shannon Rose, Elisabet Borsheim, Louise Torp Dalgaard, Eugenia Carvalho
Summary: The aim of this study was to identify a circulating miRNA profile that reflects insulin resistance in prepubertal children with obesity. Plasma miRNAs of the participants were measured and subjects were divided into normal weight and overweight or obese groups. The study found differential expression of eleven miRNAs between the two groups, and miR-146a-5p was correlated with insulin resistance. These findings may contribute to early interventions and treatments.
Article
Biotechnology & Applied Microbiology
Daniel P. Howsmon, Troy Vargason, Robert A. Rubin, Leanna Delhey, Marie Tippett, Shannon Rose, Sirish C. Bennuri, John C. Slattery, Stepan Melnyk, S. Jill James, Richard E. Frye, Juergen Hahn
BIOENGINEERING & TRANSLATIONAL MEDICINE
(2018)