Results 21 to 30 of about 13,790,477 (113)

ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance [PDF]

Diagnostics
Background/Objectives: Helsmoortel–Van der Aa syndrome (HVDAS), or ADNP syndrome, is a neurodevelopmental disorder characterized by cognitive deficits, dysmorphic features, and multisystem involvement. While typically arising de novo, familial cases with
Ahmet Kablan, Abdullah Sezer, Atakan Deniz, Elifcan Taşdelen, Firdevs Dinçsoy Bir, Abdulkerim Kolkıran, Melike Ataseven Kulalı, Kerem Teralı, Emregül Işık   +8 more
doaj   +2 more sources

Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations. [PDF]

Genet Res (Camb)
Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single‐nucleotide variations (SNVs) and InDels, in ASD genetic diagnostics.
Wang Z, Zhao Y, Yang S, Wang Y, Wang L.
europepmc   +2 more sources

Transient visual evoked potential abnormalities in ADNP syndrome [PDF]

Journal of Neurodevelopmental Disorders
Background ADNP syndrome is a rare genetic disorder associated with global developmental delay/intellectual disability, autism, aberrant behavior, and medical comorbidities. Sensory symptoms represent a core clinical feature, even in those without autism
Tess Levy, Hailey Silver, Nurit Benrey, Abigail Siegel, Christina Layton, Vance Zemon, James Gordon, Joseph D. Buxbaum, Alexander Kolevzon, Paige M. Siper   +9 more
doaj   +2 more sources

Clinical impact and in vitro characterization of ADNP variants in pediatric patients [PDF]

Molecular Autism
Background Helsmoortel–Van der Aa syndrome (HVDAS) is a rare genetic disorder caused by variants in the activity-dependent neuroprotector homeobox (ADNP) gene; hence, it is also called ADNP syndrome.
Chuanhui Ge, Yuxin Tian, Chunchun Hu, Lianni Mei, Dongyun Li, Ping Dong, Ying Zhang, Huiping Li, Daijing Sun, Wenzhu Peng, Xiu Xu, Yan Jiang, Qiong Xu   +12 more
doaj   +2 more sources

Tracing the Invisible Mutant ADNP protein in Helsmoortel- Van der Aa Syndrome patients

, 2023
Abstract Heterozygous de novo mutations in the Activity-Dependent Neuroprotective Homeobox (ADNP) gene underlie Helsmoortel-Van der Aa syndrome (HVDAS). Most of these mutations are situated in the last exon and we previously demonstrated escape from nonsense-mediated decay by detecting mutant ADNP mRNA in patient blood. In this study, wild-type
D'Incal CP, Cappuyns E, Choukri K, De Man K, Szrama K, Konings A, Bastini L, Gabriele M, Rizzuti L, Vitriolo A, Testa G, Mohn F, Bühler M, Aa NVd, Dijck AV, Kooy RF, Berghe WV.   +16 more
europepmc   +2 more sources

An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome

HGG Advances, 2022
Summary: Activity-dependent neuroprotective protein (ADNP) syndrome is a rare genetic condition associated with intellectual disability and autism spectrum disorder.
Alexander Kolevzon, Tess Levy, Sarah Barkley, Sandra Bedrosian-Sermone, Matthew Davis, Jennifer Foss-Feig, Danielle Halpern, Katherine Keller, Ana Kostic, Christina Layton, Rebecca Lee, Bonnie Lerman, Matthew Might, Sven Sandin, Paige M. Siper, Laura G. Sloofman, Hannah Walker, Jessica Zweifach, Joseph D. Buxbaum   +18 more
doaj   +1 more source

Patient with Helsmoortel-van der Aa Syndrome and O’Donnell-Luria-Rodan Syndrome: a case report

Brazilian Journal of Case Reports, 2023
Heterozygous pathogenic variants in the ADNP gene cause Helsmoortel-van der Aa syndrome which is an autosomal dominant mutation, whose patients have autism spectrum disorder (ASD) and intellectual disability. Pathogenic variants in the KTM2E gene are related to O’Donnell-Luria-Rodan syndrome, also autosomal dominant, characterized by global development
Ana Beatriz Deleame Medeiros, Danillo Alencar Coutinho, Rafael Patricio dos Santos Alarcón, Andrea de Carvalho, Leide de Almeida Praxedes   +4 more
openaire   +1 more source

A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity‐dependent neuroprotective protein (ADNP) causes a mild developmental syndrome

European Journal of Neuroscience, Volume 58, Issue 2, Page 2641-2652, July 2023., 2023
De novo missense mutation, resulting in ADNP containing NAPVISPQE instead of NAPVSIPQQ, in a toddler presenting hypotonia, early food intake problems and fear of peer interactions, a novel mild ADNP syndrome case. Modelled in silico, the Q to E mutation affected the electrostatic characteristics and molecular interactions of ADNP through the NAP ...
Illana Gozes, Shula Shazman
wiley   +1 more source

ADNP Controls Gene Expression Through Local Chromatin Architecture by Association With BRG1 and CHD4

Frontiers in Cell and Developmental Biology, 2020
ADNP (Activity Dependent Neuroprotective Protein) is proposed as a neuroprotective protein whose aberrant expression has been frequently linked to rare neural developmental disorders and cancers, including the recently described neurodevelopmental ...
XiaoYun Sun, WenJun Yu, Li Li, YuHua Sun, YuHua Sun   +4 more
doaj   +1 more source

Whole genome sequencing of 45 Japanese patients with intellectual disability

American Journal of Medical Genetics Part A, Volume 185, Issue 5, Page 1468-1480, May 2021., 2021
Abstract Intellectual disability (ID) is characterized by significant limitations in both intellectual functioning and adaptive behaviors, originating before the age of 18 years. However, the genetic etiologies of ID are still incompletely elucidated due to the wide range of clinical and genetic heterogeneity.
Chihiro Abe‐Hatano, Aritoshi Iida, Shunichi Kosugi, Yukihide Momozawa, Chikashi Terao, Keiko Ishikawa, Mariko Okubo, Yasuo Hachiya, Hiroya Nishida, Kazuyuki Nakamura, Rie Miyata, Chie Murakami, Kan Takahashi, Kyoko Hoshino, Haruko Sakamoto, Sayaka Ohta, Masaya Kubota, Eri Takeshita, Akihiko Ishiyama, Eiji Nakagawa, Masayuki Sasaki, Mitsuhiro Kato, Naomichi Matsumoto, Yoichiro Kamatani, Michiaki Kubo, Yoshiyuki Takahashi, Jun Natsume, Ken Inoue, Yu‐Ichi Goto   +28 more
wiley   +1 more source