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

Amram N, Hacohen-Kleiman G, Sragovich S, Malishkevich A, Katz J, Touloumi O, Lagoudaki R, Grigoriadis NC et al (2016) Sexual divergence in microtubule function: the novel intranasal microtubule targeting SKIP normalizes axonal transport and enhances memory. Mol Psychiatry 21:1467–1476. https://doi.org/10.1038/mp.2015.208

Article  PubMed  CAS  Google Scholar 

Asegaonkar P, Kotecha U, Dongre M, Mistri M, Sharda S (2023) Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene. Am J Med Genet A 191:275–279. https://doi.org/10.1002/ajmg.a.63017

Article  PubMed  CAS  Google Scholar 

Back DB, Choi BR, Han JS, Kwon KJ, Choi DH, Shin CY, Lee J, Kim HY (2020) Characterization of tauopathy in a rat model of post-stroke dementia combining acute infarct and chronic cerebral hypoperfusion. Int J Mol Sci 21. https://doi.org/10.3390/ijms21186929

Bassan M, Zamostiano R, Davidson A, Pinhasov A, Giladi E, Perl O, Bassan H, Blat C et al (1999) Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide. J Neurochem 72:1283–1293. https://doi.org/10.1046/j.1471-4159.1999.0721283.x

Article  PubMed  CAS  Google Scholar 

Bend EG, Aref-Eshghi E, Everman DB, Rogers RC, Cathey SS, Prijoles EJ, Lyons MJ, Davis H et al (2019) Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome. Clin Epigenetics 11:64. https://doi.org/10.1186/s13148-019-0658-5

Article  PubMed  PubMed Central  CAS  Google Scholar 

Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E et al (2020) Episignatures stratifying Helsmoortel-Van Der Aa syndrome show modest correlation with phenotype. Am J Hum Genet 107:555–563. https://doi.org/10.1016/j.ajhg.2020.07.003

Article  PubMed  PubMed Central  CAS  Google Scholar 

Busch RM, Frazier Ii TW, Sonneborn C, Hogue O, Klaas P, Srivastava S, Hardan AY, Martinez-Agosto JA et al (2023) Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change. J Neurodev Disord 15:3. https://doi.org/10.1186/s11689-022-09468-4

Article  PubMed  PubMed Central  Google Scholar 

Conrow-Graham M, Williams JB, Martin J, Zhong P, Cao Q, Rein B, Yan Z (2022) A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disorders. Brain 145:3250–3263. https://doi.org/10.1093/brain/awac152

Article  PubMed  PubMed Central  Google Scholar 

Dingemans AJM, Hinne M, Truijen KMG, Goltstein L, van Reeuwijk J, de Leeuw N, Schuurs-Hoeijmakers J, Pfundt R et al (2023) PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nat Genet 55:1598–1607. https://doi.org/10.1038/s41588-023-01469-w

Article  PubMed  CAS  Google Scholar 

Dror I, Shazman S, Mukherjee S, Zhang Y, Glaser F, Mandel-Gutfreund Y (2012) Predicting nucleic acid binding interfaces from structural models of proteins. Proteins 80:482–489. https://doi.org/10.1002/prot.23214

Article  PubMed  CAS  Google Scholar 

Frazier TW, Busch RM, Klaas P, Lachlan K, Jeste S, Kolevzon A, Loth E, Harris J et al (2023a) Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes. Am J Med Genet A 191:1741–1757. https://doi.org/10.1002/ajmg.a.63195

Article  PubMed  CAS  Google Scholar 

Frazier TW, Busch RM, Klaas P, Lachlan K, Jeste S, Kolevzon A, Loth E, Harris J et al (2023b) Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes. Am J Med Genet C Semin Med Genet 193:e32058. https://doi.org/10.1002/ajmg.c.32058

Article  PubMed  Google Scholar 

Ganaiem M, Karmon G, Ivashko-Pachima Y, Gozes I (2022) Distinct impairments characterizing different ADNP mutants reveal aberrant cytoplasmic-nuclear crosstalk. Cells 11. https://doi.org/10.3390/cells11192994

Ganaiem M, Gildor ND, Shazman S, Karmon G, Ivashko-Pachima Y, Gozes I (2023) NAP (Davunetide): the neuroprotective ADNP drug candidate penetrates cell nuclei explaining pleiotropic mechanisms. Cells 12. https://doi.org/10.3390/cells12182251

Gisel EG, Birnbaum R, Schwartz S (1998) Feeding impairments in children: diagnosis and effective intervention. Int J Orofacial Myology 24:27–33

PubMed  CAS  Google Scholar 

Gozes I (2023) A novel genomic mutation in ADNP leading to intellectual disability. Eur J Hum Genet 31:851–852. https://doi.org/10.1038/s41431-023-01387-9

Article  PubMed  Google Scholar 

Gozes I, Shazman S (2022) STOP codon mutations at sites of natural caspase cleavage are implicated in autism and Alzheimer’s disease: the case of ADNP. Front Endocrinol 13:867442. https://doi.org/10.3389/fendo.2022.867442

Article  Google Scholar 

Gozes I, Shazman S (2023) A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity-dependent neuroprotective protein (ADNP) causes a mild developmental syndrome. Eur J Neurosci 58:2641–2652. https://doi.org/10.1111/ejn.15920

Article  PubMed  CAS  Google Scholar 

Gozes I, Patterson MC, Van Dijck A, Kooy RF, Peeden JN, Eichenberger JA, Zawacki-Downing A, Bedrosian-Sermone S (2017a) 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. Front Endocrinol 8:107. https://doi.org/10.3389/fendo.2017.00107

Article  Google Scholar 

Gozes I, Van Dijck A, Hacohen-Kleiman G, Grigg I, Karmon G, Giladi E, Eger M, Gabet Y et al (2017b) Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. Transl Psychiatry 7:e1043. https://doi.org/10.1038/tp.2017.27

Article  PubMed  PubMed Central  CAS  Google Scholar 

Gozes I, Shapira G, Lobyntseva A, Shomron N (2023) Unexpected gender differences in progressive supranuclear palsy reveal efficacy for davunetide in women. Transl Psychiatry In press.

Graham-Paquin AL, Saini D, Sirois J, Hossain I, Katz MS, Zhuang QK, Kwon SY, Yamanaka Y et al (2023) ZMYM2 is essential for methylation of germline genes and active transposons in embryonic development. Nucleic Acids Res 51:7314–7329. https://doi.org/10.1093/nar/gkad540

Article  PubMed  PubMed Central  CAS  Google Scholar 

Grigg I, Ivashko-Pachima Y, Hait TA, Korenkova V, Touloumi O, Lagoudaki R, Van Dijck A, Marusic Z et al (2020) Tauopathy in the young autistic brain: novel biomarker and therapeutic target. Transl Psychiatry 10:228. https://doi.org/10.1038/s41398-020-00904-4

Article  PubMed  PubMed Central  CAS  Google Scholar 

Hadar A, Kapitansky O, Ganaiem M, Sragovich S, Lobyntseva A, Giladi E, Yeheskel A, Avitan A et al (2021) Introducing ADNP and SIRT1 as new partners regulating microtubules and histone methylation. Mol Psychiatry 26:6550–6561. https://doi.org/10.1038/s41380-021-01143-9

Article  PubMed  CAS  Google Scholar 

Hudac CM, Friedman NR, Ward VR, Estreicher RE, Dorsey GC, Bernier RA, Kurtz-Nelson EC, Earl RK et al. (2023) Characterizing sensory phenotypes of subgroups with a known genetic etiology pertaining to diagnoses of autism spectrum disorder and intellectual disability. J Autism Dev Disord:1–16. https://doi.org/10.1007/s10803-023-05897-9

Ivashko-Pachima Y, Hadar A, Grigg I, Korenkova V, Kapitansky O, Karmon G, Gershovits M, Sayas CL et al (2021) Discovery of autism/intellectual disability somatic mutations in Alzheimer’s brains: mutated ADNP cytoskeletal impairments and repair as a case study. Mol Psychiatry 26:1619–1633. https://doi.org/10.1038/s41380-019-0563-5

Article  PubMed  CAS  Google Scholar 

Ivashko-Pachima Y, Ganaiem M, Ben-Horin-Hazak I, Lobyntseva A, Bellaiche N, Fischer I, Levy G, Sragovich S et al (2022) SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism. Mol Psychiatry 27:3316–3327. https://doi.org/10.1038/s41380-022-01603-w

Article  PubMed  CAS  Google Scholar 

Kapitansky O, Karmon G, Sragovich S, Hadar A, Shahoha M, Jaljuli I, Bikovski L, Giladi E et al (2020a) Single cell ADNP predictive of human muscle disorders: mouse knockdown results in muscle wasting. Cells 9. https://doi.org/10.3390/cells9102320

Kapitansky O, Sragovich S, Jaljuli I, Hadar A, Giladi E, Gozes I (2020b) Age and sex-dependent ADNP regulation of muscle gene expression is correlated with motor behavior: possible feedback mechanism with PACAP. Int J Mol Sci 21. https://doi.org/10.3390/ijms21186715

Kapitansky O, Gozes I (2019) ADNP differentially interact with genes/proteins in correlation with aging: a novel marker for muscle aging. Geroscience 41:321–340. https://doi.org/10.1007/s11357-019-00079-x

Article  PubMed  PubMed Central  CAS  Google Scholar 

Karmon G, Sragovich S, Hacohen-Kleiman G, Ben-Horin-Hazak I, Kasparek P, Schuster B, Sedlacek R, Pasmanik-Chor M et al (2022) Novel ADNP syndrome mice reveal dramatic sex-specific peripheral gene expression with brain synaptic and tau pathologies. Biol Psychiatry 92:81–95. https://doi.org/10.1016/j.biopsych.2021.09.018

Article  PubMed  CAS  Google Scholar 

Kolevzon A, Levy T, Barkley S, Bedrosian-Sermone S, Davis M, Foss-Feig J, Halpern D, Keller K et al (2022) An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome. HGG Adv 3:100138. https://doi.org/10.1016/j.xhgg.2022.100138

Article  PubMed  PubMed Central  CAS  Google Scholar 

Kumar A, Lyu Y, Yanagihashi Y, Chantarasrivong C, Majerciak V, Salemi M, Wang KH, Inagaki T et al (2022) KSHV episome tethering sites on host chromosomes and regulation of latency-lytic switch by CHD4. Cell Rep 39:110788. https://doi.org/10.1016/j.celrep.2022.110788

Article  PubMed  PubMed Central  CAS  Google Scholar 

Levine J, Hakim F, Kooy RF, Gozes I (2022) 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. J Mol Neurosci 72:1531–1546. https://doi.org/10.1007/s12031-022-02048-0

Article  PubMed  CAS  Google Scholar 

Lewerissa EI, Nadif Kasri N, Linda K (2023) Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders. Autophagy:1–14. https://doi.org/10.1080/15548627.2023.2250217

Malishkevich A, Amram N, Hacohen-Kleiman G, Magen I, Giladi E, Gozes I (2015) Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer’s pathologies. Transl Psychiatry 5:e501. https://doi.org/10.1038/tp.2014.138

Article  PubMed  PubMed Central  CAS  Google Scholar 

Mandel S, Gozes I (2007) Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex. J Biol Chem 282:34448–34456. https://doi.org/10.1074/jbc.M704756200

Article  PubMed  CAS 

留言 (0)

沒有登入
gif