Research & Literature

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

Stern D, Cho MT, Chikarmane R, et al.

Clinical genetics 2017; (92(2)):221-223 doi:10.1111/cge.12956.

Interaction between FMDV Lpro and transcription factor ADNP is required for optimal viral replication.

Medina GN, Knudsen GM, Greninger AL, et al.

Virology 2017; (505()):12-22 doi:10.1016/j.virol.2017.02.010.

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.

Takenouchi T, Miwa T, Sakamoto Y, et al.

American journal of medical genetics. Part A 2017; (173(6)):1631-1634 doi:10.1002/ajmg.a.38126.

The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.

Gozes I, Patterson MC, Van Dijck A, et al.

Frontiers in endocrinology 2017; (8()):107 doi:10.3389/fendo.2017.00107.

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

Gozes I, Van Dijck A, Hacohen-Kleiman G, et al.

Translational psychiatry 2017; (7(7)):e1166 doi:10.1038/tp.2017.128.

Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray.

Stipoljev F, Miric-Tesanic D, Hafner T, et al.

European journal of medical genetics 2017; (60(11)):589-594 doi:10.1016/j.ejmg.2017.08.010.

ADNP Plays a Key Role in Autophagy: From Autism to Schizophrenia and Alzheimer's Disease.

Sragovich S, Merenlender-Wagner A, Gozes I

BioEssays : news and reviews in molecular, cellular and developmental biology 2017; (39(11)) doi:10.1002/bies.201700054.

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.

Pascolini G, Agolini E, Majore S, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018; (22(3)):552-557 doi:10.1016/j.ejpn.2018.01.024.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, et al.

Biological psychiatry 2019; (85(4)):287-297 doi:10.1016/j.biopsych.2018.02.1173.

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.

Huynh MT, Boudry-Labis E, Massard A, et al.

European journal of human genetics : EJHG 2018; (26(10)):1497-1501 doi:10.1038/s41431-018-0165-8.

Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome.

Hacohen-Kleiman G, Sragovich S, Karmon G, et al.

The Journal of clinical investigation 2018; (128(11)):4956-4969.

The autism spectrum phenotype in ADNP syndrome.

Arnett AB, Rhoads CL, Hoekzema K, et al.

Autism research : official journal of the International Society for Autism Research 2018; (11(9)):1300-1310 doi:10.1002/aur.1980.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

Bend EG, Aref-Eshghi E, Everman DB, et al.

Clinical epigenetics 2019; (11(1)):64 doi:10.1186/s13148-019-0658-5.

From the Editors Desk: Angela Zawacki-Downing Writing to Professor Illana Gozes, Editor-in-Chief Journal of Molecular Neuroscience-Speaking from a Mother's Heart, AD's ADNP Syndrome.

Zawacki-Downing A

Journal of molecular neuroscience : MN 2019; (68(4)):511-514 doi:10.1007/s12031-019-01337-5.

Microbiota changes associated with ADNP deficiencies: rapid indicators for NAP (CP201) treatment of the ADNP syndrome and beyond.

Kapitansky O, Giladi E, Jaljuli I, et al.

Journal of neural transmission (Vienna, Austria : 1996) 2020; (127(2)):251-263 doi:10.1007/s00702-020-02155-5.

Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndrome.

Shillington A, Pedapati E, Hopkin R, Suhrie K

Molecular genetics & genomic medicine 2020; (8(6)):e1230 doi:10.1002/mgg3.1230.

Tauopathy in the young autistic brain: novel biomarker and therapeutic target.

Grigg I, Ivashko-Pachima Y, Hait TA, et al.

Translational psychiatry 2020; (10(1)):228 doi:10.1038/s41398-020-00904-4.

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

Sun X, Yu W, Li L, Sun Y

Frontiers in cell and developmental biology 2020; (8()):553 doi:10.3389/fcell.2020.00553.

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.

Breen MS, Garg P, Tang L, et al.

American journal of human genetics 2020; (107(3)):555-563 doi:10.1016/j.ajhg.2020.07.003.

Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review.

Hanly C, Shah H, Au PYB, Murias K

Clinical genetics 2021; (99(3)):335-346 doi:10.1111/cge.13882.

The ADNP Syndrome and CP201 (NAP) Potential and Hope.

Gozes I

Frontiers in neurology 2020; (11()):608444 doi:10.3389/fneur.2020.608444.

Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis.

Siper PM, Layton C, Levy T, et al.

Genes 2021; (12(3)) doi:10.3390/genes12030351.

Oro-Dental Manifestations in a Pediatric Patient Affected by Helsmoortel-Van der Aa Syndrome.

Petruzzi M, Stella A, Capra V, et al.

International journal of environmental research and public health 2021; (18(17)) doi:10.3390/ijerph18178957.

All in the Family: Living With ADNP Syndrome.

Fletcher PC, Pollock S, Luymes N, Bryden PJ

Clinical nurse specialist CNS 2022; (36(4)):214-222 doi:10.1097/NUR.0000000000000680.

Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.

Coursimault J, Goldenberg A, Nicolas G, et al.

European journal of medical genetics 2022; (65(9)):104556 doi:10.1016/j.ejmg.2022.104556.

Vineland Adaptive Behavior Scale in a Cohort of Four ADNP Syndrome Patients Implicates Age-Dependent Developmental Delays with Increased Impact of Activities of Daily Living.

Levine J, Hakim F, Kooy RF, Gozes I

Journal of molecular neuroscience : MN 2022; (72(8)):1531-1546 doi:10.1007/s12031-022-02048-0.

The cytoplasmic localization of ADNP through 14-3-3 promotes sex-dependent neuronal morphogenesis, cortical connectivity, and calcium signaling.

Bennison SA, Blazejewski SM, Liu X, et al.

Molecular psychiatry 2023; (28(5)):1946-1959 doi:10.1038/s41380-022-01939-3.

Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.

D'Incal CP, Van Rossem KE, De Man K, et al.

Clinical epigenetics 2023; (15(1)):45 doi:10.1186/s13148-023-01450-8.

ADNP Syndrome: A Qualitative Assessment of Symptoms, Therapies, and Challenges.

Fastman J, Kolevzon A

Children (Basel, Switzerland) 2023; (10(3)) doi:10.3390/children10030593.

Helsmoortel-van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report.

Chen LJ, You ZM, Chen WH, et al.

Frontiers in pediatrics 2023; (11()):1122513 doi:10.3389/fped.2023.1122513.

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder.

Writzl K, Mavčič B, Maver A, et al.

Frontiers in genetics 2023; (14()):1167054 doi:10.3389/fgene.2023.1167054.

Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome.

Rosenblum J, Van der Veeken L, Aertsen M, et al.

European journal of medical genetics 2023; (66(11)):104855 doi:10.1016/j.ejmg.2023.104855.

NAP (Davunetide): The Neuroprotective ADNP Drug Candidate Penetrates Cell Nuclei Explaining Pleiotropic Mechanisms.

Ganaiem M, Gildor ND, Shazman S, et al.

Cells 2023; (12(18)) doi:10.3390/cells12182251.

Clinical impact and in vitro characterization of ADNP variants in pediatric patients.

Ge C, Tian Y, Hu C, et al.

Molecular autism 2024; (15(1)):5 doi:10.1186/s13229-024-00584-7.

Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.

Levine J, Lobyntseva A, Shazman S, et al.

Journal of molecular neuroscience : MN 2024; (74(1)):15 doi:10.1007/s12031-024-02189-4.

Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome.

D'Incal CP, Annear DJ, Elinck E, et al.

European journal of human genetics : EJHG 2024; (32(6)):630-638 doi:10.1038/s41431-024-01556-4.

Patient-led research and displacements of biomedical knowledge production, distribution, and consumption.

Strand DL, Holen M

Health (London, England : 1997) 2025; (29(2)):276-294 doi:10.1177/13634593241249096.

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.

Al-Enezi E, Alghamdi M, Al-Enezi K, et al.

Journal of medical case reports 2024; (18(1)):422 doi:10.1186/s13256-024-04746-2.

ADNP is essential for sex-dependent hippocampal neurogenesis, through male unfolded protein response and female mitochondrial gene regulation.

Shapira G, Karmon G, Hacohen-Kleiman G, et al.

Molecular psychiatry 2025; (30(6)):2696-2706 doi:10.1038/s41380-024-02879-w.

Transcriptomic Analysis Uncovers an Unfolded Protein Response in ADNP Syndrome.

Bieluszewska A, Wulfridge P, Fang KC, et al.

Molecular and cellular biology 2025; (45(4)):143-153 doi:10.1080/10985549.2025.2463892.

Intranasal NAP (Davunetide): Neuroprotection and circadian rhythmicity.

Galushkin A, Gozes I

Advanced drug delivery reviews 2025; (220()):115573 doi:10.1016/j.addr.2025.115573.

The De Novo p.(Ser802Phe) Variant Causes Helsmoortel-Van der Aa/ ADNP Syndrome in a 24-Year-Old Woman and Is Predicted to Perturb ADNP-DNA Affinity.

Benvenuto M, Giacomo MCD, Piepoli A, et al.

American journal of medical genetics. Part A 2026; (200(2)):468-474 doi:10.1002/ajmg.a.64264.

ADNP Exhibits Methyltransferase Activity in Overexpression Systems and Modulates DNA and Histone Methylation.

D'Incal CP, Van Rossem KE, Cappuyns E, et al.

Autism research : official journal of the International Society for Autism Research 2025; (18(11)):2174-2191 doi:10.1002/aur.70132.

Everolimus ameliorates cognitive deficits and synaptic dysfunction in mice with prefrontal cortical ADNP knockdown.

Xiang Y, Zhang Z, Jiang Y, Wei H

Neuroscience letters 2026; (871()):138460 doi:10.1016/j.neulet.2025.138460.