{"id":2388,"date":"2025-12-18T12:00:27","date_gmt":"2025-12-18T10:00:27","guid":{"rendered":"https:\/\/pediatria-spisanie.eu\/2025\/12\/18\/zmynd11-svurzano-sindromno-izostavane\/"},"modified":"2025-12-18T13:13:45","modified_gmt":"2025-12-18T11:13:45","slug":"zmynd11-svurzano-sindromno-izostavane","status":"publish","type":"post","link":"https:\/\/pediatria-spisanie.eu\/en\/2025\/12\/18\/zmynd11-svurzano-sindromno-izostavane\/","title":{"rendered":"A Clinical Case of ZMYND11-Associated Syndromic Intellectual Disability"},"content":{"rendered":"\n\n\t\t
\n\t\t\t\t\t
\n\t\t\t\t
\n\t\t\t\t\t
\n\t\t\t\t\t\t\"\"\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t\t\t
\n\t\t\t\t\t\t\t\t\t\n

M. Bogdanova1, T. Delchev1,2, T. Veleva1,2, D. Avdzhieva-Tzavella1,2 <\/h3>\n

1Clinic for the treatment of children with genetic diseases, SBALDB \u201cProf. Ivan Mitev\u201d – Sofia\n2Department of Pediatrics, Faculty of Medicine, MU – Sofia <\/br>\n<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t\n

<\/div>\n\n\n\n

Abstract<\/h2>\n\n\n\n

Various pathogenic or likely pathogenic variants have been identified in the ZMYND11 gene, located on the short arm of chromosome 10, which encodes the synthesis of the ZMYND11 protein. As a result, reduced levels or reduced function of the ZMYND11 protein manifests in dysmorphic features, delayed neuropsychological development, behavioral disorders, hypotonia, and seizures.<\/p>\n\n\n\n

We present a clinical case of a boy with related syndromic intellectual disability due to a pathogenic variant in the ZMYND11 gene.<\/p>\n\n\n\n

<\/p>\n\n\n\n

Keywords:<\/strong> syndromic intellectual disability, behavioral disorders, pathogenic variant, ZMYND11<\/em><\/em><\/p>\n\n\n

<\/div>\n\n\n\t\t
\n\t\t\t\t\t
\n\t\t\t
\n\t\t\t\tTo access this content, you must purchase \u0413\u043e\u0434\u0438\u0448\u0435\u043d \u0430\u0431\u043e\u043d\u0430\u043c\u0435\u043d\u0442<\/a><\/span>.\t\t <\/div>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n\n\n

Bibliography<\/strong><\/h2>\n\n\n\n
    \n
  1. Kniffin CL. Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities; MRD30 [Internet]. 2022 Sep 1 [cited 2025 Aug 5]. Available from: https:\/\/omim.org\/entry\/616083<\/a><\/li>\n\n\n\n
  2. Wen H, Li Y, Xi Y, et al. ZMYND11 links histone H3.3 K36 trimethylation to transcription elongation and tumor suppression. Nature. 2014;508(7495):263\u20138. doi:10.1038\/nature13045<\/li>\n\n\n\n
  3. Oates S, Absoud M, Goyal S, et al. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clin Genet. 2021;100(4):412\u201329. doi:10.1111\/cge.14023<\/li>\n\n\n\n
  4. Rare Chromosome Disorder Support Group. ZMYND11-related syndromic intellectual disability (ID) [Internet]. ZMYND11 related syndromic intellectual disability QFN.pdf.<\/li>\n\n\n\n
  5. Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O\u2019Driscoll M, Charles P, Cox H, et al. ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Hum Mutat. 2020;41(5):1042\u201350.<\/li>\n\n\n\n
  6. Indelicato E, Zech M, Amprosi M, et al. Untangling neurodevelopmental disorders in adulthood: a movement disorder is the clue. Orphanet J Rare Dis. 2022;17:55. doi:10.1186\/s13023-022-02218-8<\/li>\n\n\n\n
  7. Bodetko A, Chrzanowska J, et al. Further delineation of clinical phenotype of ZMYND11 variants in patients with neurodevelopmental dysmorphic syndrome. Genes (Basel). 2024;15(2):256. doi:10.3390\/genes15020256<\/li>\n\n\n\n
  8. National Center for Biotechnology Information. ClinVar; [VCV000208648.47] [Internet]. [cited 2025 Aug 5]. Available from: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000208648.47<\/a><\/li>\n\n\n\n
  9. Iossifov I, Ronemus M, et al. De novo gene disruptions in children on the autistic spectrum. Neuron. 2012;74:285\u201399.<\/li>\n\n\n\n
  10. Cobben JM, Weiss M, et al. A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability. Eur J Med Genet. 2014;57:636\u20138.<\/li>\n\n\n\n
  11. Moskowitz AM, Belnap N, et al. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia. Cold Spring Harb Mol Case Stud. 2016;2(5):a000851. doi:10.1101\/mcs.a000851<\/li>\n\n\n\n
  12. Garc\u00eda-Guti\u00e9rrez P, Garc\u00eda-Dom\u00ednguez M. BETting on a transcriptional deficit as the main cause for Cornelia de Lange syndrome. Front Mol Biosci. 2021;8:709232.<\/li>\n<\/ol>\n\n\n
    <\/div>\n\n\n\n

    Address for correspondence:<\/strong><\/p>\n\n\n\n

    M. Bogdanova <\/p>\n\n\n\n

    Department of Clinical Genetics of the SBALDB \u201cProf. Ivan Mitev\u201d, Sofia
    e-mail: bogdanovamagdalena1@gmail.com<\/p>\n\n\n\n

    <\/p>\n\n\n\n

    <\/p>\n\n\n\n

    <\/p>\n","protected":false},"excerpt":{"rendered":"

    M. Bogdanova1, T. Delchev1,2, T. Veleva1,2, D. Avdzhieva-Tzavella1,2
    \n1Clinic for the treatment of children with genetic diseases, SBALDB \u201cProf. Ivan Mitev\u201d – Sofia
    \n2Department of Pediatrics, Faculty of Medicine, MU – Sofia<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_pediatria_doi":"","footnotes":""},"categories":[2681,2676,1],"tags":[2779,2780,2778,2777,2769],"class_list":["post-2388","post","type-post","status-publish","format-standard","hentry","category-issue-4-2025","category-broj-4-2025","category-statii","tag-behavioral-disorders","tag-clinical-case-of-zmynd11-associated-syndromic-intellectual-disability","tag-pathogenic-variant","tag-syndromic-intellectual-disability","tag-zmynd11"],"_links":{"self":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/2388","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/comments?post=2388"}],"version-history":[{"count":2,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/2388\/revisions"}],"predecessor-version":[{"id":2391,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/2388\/revisions\/2391"}],"wp:attachment":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/media?parent=2388"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/categories?post=2388"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/tags?post=2388"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}