Results 1 to 10 of about 13,790,427 (112)

Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report [PDF]

Frontiers in Pediatrics, 2023
BackgroundHelsmoortel–van der Aa syndrome, also known as ADNP syndrome, is a condition that causes developmental delay, language impairment, autism spectrum, and variable extraneurologic features.
Li-juan Chen, Zhong-min You, Wen-hong Chen, Si Yang, Chun-chen Feng, Hai-yong Wang, Ting Wang, Yuan-yuan Zhu   +7 more
doaj   +4 more sources

ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case [PDF]

Acta Neuropathologica Communications
Background Helsmoortel–Van der Aa syndrome is a neurodevelopmental disorder in which patients present with autism, intellectual disability, and frequent extra-neurological features such as feeding and gastrointestinal problems, visual impairments, and ...
Claudio D’Incal, Anke Van Dijck, Joe Ibrahim, Kevin De Man, Lina Bastini, Anthony Konings, Ellen Elinck, Claudia Theys, Illana Gozes, Zlatko Marusic, Mirna Anicic, Jurica Vukovic, Nathalie Van der Aa, Ligia Mateiu, Wim Vanden Berghe, R. Frank Kooy   +15 more
doaj   +4 more sources

Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome [PDF]

American Journal of Ophthalmology Case Reports, 2018
Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis. Observations: After extensive workup, a young child with poor visual behavior, hypotonic
Michael J. Gale, Hope E. Titus, Gareth A. Harman, Talal Alabduljalil, Anna Dennis, Jenny L. Wilson, David M. Koeller, Erika Finanger, Peter A. Blasco, Pei-Wen Chiang, Daniel J. Karr, Paul Yang   +11 more
doaj   +3 more sources

Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report [PDF]

Journal of Medical Case Reports
Background Helsmoortel-Van der Aa syndrome was officially documented in 2014. Helsmoortel-Van der Aa syndrome is an extremely rare complex neurodegenerative disorder characterized by reduced intellectual capacity, motor dysfunction, facial dysmorphism ...
Ebtesam Al-Enezi, Mohannad Alghamdi, Khaled Al-Enezi, Mohammed AlBalwi, William Davies, Wafaa Eyaid   +5 more
doaj   +3 more sources

Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients [PDF]

Scientific Reports
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 ...
Claudio Peter D’Incal, Elisa Cappuyns, Kaoutar Choukri, Kevin De Man, Kristy Szrama, Anthony Konings, Lina Bastini, Kim Van Meel, Amber Buys, Michele Gabriele, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Fabio Mohn, Marc Bühler, Nathalie Van der Aa, Anke Van Dijck, R. Frank Kooy, Wim Vanden Berghe   +18 more
doaj   +3 more sources

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome [PDF]

Brain Sciences
Background: Helsmoortel-Van der Aa syndrome (HVDAS) is a rare multisystemic neurodevelopmental disorder caused by pathogenic variants in the Activity-Dependent Neuroprotective Homeobox Protein (ADNP) gene.
Lusine Harutyunyan, Claudio P. D’Incal, Anna C. Jansen, Marije Meuwissen, Anke Van Dijck, R. Frank Kooy   +5 more
doaj   +3 more sources

Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism [PDF]

Clinical Epigenetics, 2023
Background Individuals affected with autism often suffer additional co-morbidities such as intellectual disability. The genes contributing to autism cluster on a relatively limited number of cellular pathways, including chromatin remodeling.
Claudio Peter D’Incal, Kirsten Esther Van Rossem, Kevin De Man, Anthony Konings, Anke Van Dijck, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Illana Gozes, Wim Vanden Berghe, R. Frank Kooy   +10 more
doaj   +2 more sources

ADNP missense variant p.C687R disrupts chromatin regulation and GABAergic differentiation in Helsmoortel–Van der Aa syndrome [PDF]

Molecular Autism
Background Activity-dependent neuroprotective protein (ADNP) is a critical regulator of neurodevelopment, and most pathogenic variants reported in Helsmoortel–Van der Aa syndrome (HVDAS) are truncating variants.
Qi Chen, Xixi Liu, Mengnan Wu, Daijing Sun, Xingyu Ding, Mengling Zhou, Wenzhu Peng, Yan Cheng, Biqing Xue, Ning Tang, Gang Xu, Yilin Tai, Qiong Xu, Man Xiong, Yan Jiang   +14 more
doaj   +2 more sources

A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study [PDF]

Clinical Epigenetics
Background The Helsmoortel-Van der Aa syndrome is an autosomal-dominant neurodevelopment disorder caused by heterozygous de novo variants in the Activity-Dependent Neuroprotective Protein (ADNP) gene, characterized by autism, intellectual disability ...
Claudio Peter D’Incal, Anke Van Dijck, Dale John Annear, Lusine Harutyunyan, Ellen Elinck, Alexander J. M. Dingemans, Bert B. A. de Vries, Ligia Mateiu, Marije Meuwissen, Anna C. Jansen, R. Frank Kooy   +10 more
doaj   +2 more sources

Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis. [PDF]

J Intellect Disabil Res
ABSTRACT Background Dravet Syndrome (DS), Helsmoortel‐Van Der Aa Syndrome (HVDAS) and Tuberous Sclerosis Complex (TSC) are rare genetic syndromes, sharing intellectual disability (ID) and motor delay. In DS, two distinct gait patterns, crouch and non‐crouch, have been described using instrumented 3D gait analysis (i3DGA).
Kınacı-Biber E, Gys L, Jansen AC, Schoonjans AS, Van Dijck A, Kooy RF, Van de Walle P, Hallemans A.   +7 more
europepmc   +2 more sources