{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T12:00:16Z","timestamp":1785499216041,"version":"3.56.0"},"reference-count":18,"publisher":"Akademiai Kiado Zrt.","issue":"8","license":[{"start":{"date-parts":[[2025,2,23]],"date-time":"2025-02-23T00:00:00Z","timestamp":1740268800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2025,2,23]]},"abstract":"<jats:p>\n                    A szerte\u00e1gaz\u00f3 t\u00fcnetek integr\u00e1l\u00e1sa, a megfelel\u0151 diagnosztikai l\u00e9p\u00e9sek\n                    kiv\u00e1laszt\u00e1sa, majd az eredm\u00e9nyek \u00e9rt\u00e9kel\u00e9se \u2013 genetikai betegs\u00e9g gyan\u00faja eset\u00e9n\n                    \u2013 nagy kih\u00edv\u00e1s. Esetismertet\u00e9s\u00fcnkben egy sz\u00edv- \u00e9s idegrendszeri fejl\u0151d\u00e9si\n                    rendelleness\u00e9ggel, valamint hormon\u00e1lis elt\u00e9r\u00e9ssel rendelkez\u0151 fi\u00fagyermek\n                    k\u00f3rt\u00f6rt\u00e9net\u00e9t mutatjuk be. A t\u00e1rsul\u00f3 s\u00falyos pszichomotoros fejl\u0151d\u00e9si elmarad\u00e1s,\n                    a minor anom\u00e1li\u00e1k \u00e9s a sz\u00fclet\u00e9st\u0151l fogva sz\u00e1mos alkalommal visszat\u00e9r\u0151 szeptikus\n                    \u00e1llapot \u00e9szlel\u00e9se nyom\u00e1n kezdem\u00e9nyezt\u00fck beteg\u00fcnk genetikai vizsg\u00e1lat\u00e1t. Az\n                    elv\u00e9gzett multiplex ligatiof\u00fcgg\u0151 pr\u00f3baamplifik\u00e1ci\u00f3s (MLPA-) vizsg\u00e1lattal\n                    <jats:italic>MECP2<\/jats:italic>\n                    -duplik\u00e1ci\u00f3s szindr\u00f3ma igazol\u00f3dott. Ez a Lubs-f\u00e9le\n                    ment\u00e1lis fejl\u0151d\u00e9si zavarnak is nevezett genetikai k\u00f3rk\u00e9p X-hez k\u00f6t\u00f6tt recessz\u00edv\n                    m\u00f3don \u00f6r\u00f6kl\u0151dik. Pontos gyakoris\u00e1ga nem ismert, a szakirodalom eddig k\u00f6zel 200\n                    szem\u00e9lyr\u0151l sz\u00e1molt be. A klinikai t\u00fcnetek s\u00falyoss\u00e1ga \u00f6sszef\u00fcgg\u00e9st mutat a\n                    duplik\u00e1l\u00f3dott kromosz\u00f3maszakasz m\u00e9ret\u00e9vel. A vizsg\u00e1lt gyermekn\u00e9l \u00e9rintett r\u00e9gi\u00f3\n                    az\n                    <jats:italic>MECP2<\/jats:italic>\n                    mellett az\n                    <jats:italic>SLC6A8, IDH3G, L1CAM, IRAK1, FLNA,\n                        GDI1, DKC1, F8<\/jats:italic>\n                    \u00e9s\n                    <jats:italic>VAMP7<\/jats:italic>\n                    g\u00e9neket is tartalmazta,\n                    ami hozz\u00e1j\u00e1rulhatott a szerte\u00e1gaz\u00f3 klinikai k\u00e9p megjelen\u00e9s\u00e9hez. Kiemelj\u00fck a\n                    szindr\u00f3m\u00e1ra jellemz\u0151 cs\u00f6kkent kortizolv\u00e1lasz k\u00f3roki szerep\u00e9t a visszat\u00e9r\u0151,\n                    s\u00falyos szeptikus \u00e1llapotok h\u00e1tter\u00e9ben. A genetikai vizsg\u00e1l\u00f3m\u00f3dszereknek ma m\u00e1r\n                    sz\u00e9les spektruma \u00e9rhet\u0151 el, de elind\u00edt\u00e1suk a klinikuson m\u00falik. F\u0151 c\u00e9lunk a jelen\n                    k\u00f6zlem\u00e9nnyel, hogy felh\u00edvjuk a figyelmet ezekre a speci\u00e1lis anal\u00edzisekre,\n                    amelyek a diagnosztikus utat ler\u00f6vid\u00edthetik, \u00e9s a h\u00e1zasp\u00e1r \u00fajabb\n                    terhess\u00e9gv\u00e1llal\u00e1sa eset\u00e9n megalapozz\u00e1k a praenatalis diagnosztik\u00e1t. Orv Hetil.\n                    2025; 166(8): 313\u2013316.\n                  <\/jats:p>","DOI":"10.1556\/650.2025.33234","type":"journal-article","created":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T19:54:20Z","timestamp":1740426860000},"page":"313-316","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":0,"title":["A MECP2 g\u00e9nt tartalmaz\u00f3 X-kromoszom\u00e1lis Xq28 r\u00e9gi\u00f3 duplik\u00e1ci\u00f3ja Lubs-f\u00e9le intellektu\u00e1lis fejl\u0151d\u00e9si zavarban"],"prefix":"10.1556","volume":"166","author":[{"given":"Zs\u00f3fia","family":"N\u00e9meth","sequence":"first","affiliation":[{"name":"Vas V\u00e1rmegyei Markusovszky Egyetemi Oktat\u00f3k\u00f3rh\u00e1z, Csecsem\u0151- \u00e9s Gyermekgy\u00f3gy\u00e1szati Oszt\u00e1ly Szombathely Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Sink\u00f3","sequence":"additional","affiliation":[{"name":"Vas V\u00e1rmegyei Markusovszky Egyetemi Oktat\u00f3k\u00f3rh\u00e1z, Csecsem\u0151- \u00e9s Gyermekgy\u00f3gy\u00e1szati Oszt\u00e1ly Szombathely Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judit","family":"K\u00e1rteszi","sequence":"additional","affiliation":[{"name":"Zala V\u00e1rmegyei Szent Rafael K\u00f3rh\u00e1z, Genetikai Tan\u00e1csad\u00e1s Zalaegerszeg Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violetta","family":"Cs\u00e1kv\u00e1ry","sequence":"additional","affiliation":[{"name":"Vas V\u00e1rmegyei Markusovszky Egyetemi Oktat\u00f3k\u00f3rh\u00e1z, Csecsem\u0151- \u00e9s Gyermekgy\u00f3gy\u00e1szati Oszt\u00e1ly Szombathely Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","reference":[{"key":"R1","doi-asserted-by":"crossref","unstructured":"Giudice-Nairn P, Downs J, Wong K, et al. The incidence, prevalence\n                    and clinical features of MECP2 duplication syndrome in\n                    Australian children. J Paediatr Child Health 2019; 55:\n                    1315\u20131322.","DOI":"10.1111\/jpc.14399"},{"key":"R2","doi-asserted-by":"crossref","unstructured":"Ta D, Downs J, Baynam G, et al. A brief history of\n                        MECP2 duplication syndrome: 20-years of clinical\n                    understanding. Orphanet J Rare Dis. 2022; 17: 131.","DOI":"10.1186\/s13023-022-02278-w"},{"key":"R3","doi-asserted-by":"crossref","unstructured":"D\u2019Mello SR 3rd. MECP2 and the biology of\n                        MECP2 duplication syndrome. J Neurochem. 2021; 159:\n                    29\u201360.","DOI":"10.1111\/jnc.15331"},{"key":"R4","doi-asserted-by":"crossref","unstructured":"Ramocki MB, Tavyev YJ, Peters SU. The MECP2\n                    duplication syndrome. Am J Med Genet A 2010; 152A(5):\n                    1079\u20131088.","DOI":"10.1002\/ajmg.a.33184"},{"key":"R5","unstructured":"MedlinePlus Genetics. MECP2 duplication syndrome.\n                    Available from:\n                        https:\/\/medlineplus.gov\/genetics\/condition\/mecp2-duplication-syndrome\/\n                    [accessed: June 17, 2024]."},{"key":"R6","doi-asserted-by":"crossref","unstructured":"Peters SU, Fu C, Neul JL, et al. Cortisol profiles and clinical\n                    severity in MECP2 duplication syndrome. J Neurodev Disord.\n                    2020; 12: 19.","DOI":"10.1186\/s11689-020-09322-5"},{"key":"R7","doi-asserted-by":"crossref","unstructured":"Bauer M, K\u00f6lsch U, Kr\u00fcger R, et al. Infectious and immunologic\n                    phenotype of MECP2 duplication syndrome. J Clin Immunol. 2015;\n                    35: 168\u2013181.","DOI":"10.1007\/s10875-015-0129-5"},{"key":"R8","doi-asserted-by":"crossref","unstructured":"Yang T, Ramocki MB, Neul JL, et al. Overexpression of methyl-CpG\n                    binding protein 2 impairs T(H)1 responses. Sci Transl Med. 2012; 4(163):\n                    163ra158.","DOI":"10.1126\/scitranslmed.3004430"},{"key":"R9","unstructured":"MedlinePlus Genetics. SLC6A8 gene. Available from:\n                        https:\/\/medlineplus.gov\/genetics\/gene\/slc6a8\/#conditions\n                    [accessed: June 17, 2024]."},{"key":"R10","unstructured":"GeneCards. IDH3G gene \u2013 isocitrate dehydrogenase\n                    (NAD(+)) 3 non-catalytic subunit gamma. Available from:\n                        https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=IDH3G\n                    [accessed: June 17, 2024]."},{"key":"R11","unstructured":"MedlinePlus Genetics. L1CAM gene. Available from:\n                        https:\/\/medlineplus.gov\/genetics\/gene\/l1cam\/ [accessed: June 17,\n                    2024]."},{"key":"R12","doi-asserted-by":"crossref","unstructured":"D\u2019Adamo P, Menegon A, Lo Nigro C, et al. Mutations in\n                        GDI1 are responsible for X-linked non-specific mental\n                    retardation. Nat Genet. 1998; 19: 134\u2013139. Erratum: Nat Genet. 1998 Jul; 19:\n                    303.","DOI":"10.1038\/487"},{"key":"R13","unstructured":"GeneCards. IRAK1 Gene \u2013 Interleukin 1 Receptor\n                    Associated Kinase 1. Available from:\n                        https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=IRAK1\n                    [accessed: June 17, 2024]."},{"key":"R14","doi-asserted-by":"crossref","unstructured":"Murugan A, Babiker MO, Newbury-Ecob R. An FLNA gene\n                    variant causing congenital cardiac defects, persistent thrombocytopenia and an\n                    \u2018incidental\u2019 periventricular nodular heterotopia: a case report. Eur J Med Case\n                    Rep. 2017; 1: 10\u201313.","DOI":"10.24911\/ejmcr\/1\/3"},{"key":"R15","unstructured":"MedlinePlus Genetics. DKC1 gene. Available from:\n                        https:\/\/medlineplus.gov\/genetics\/gene\/dkc1\/ [accessed: June 17,\n                    2024]."},{"key":"R16","unstructured":"MedlinePlus Genetics. F8 gene. Available from:\n                        https:\/\/medlineplus.gov\/genetics\/gene\/f8\/ [accessed: June 17,\n                    2024]."},{"key":"R17","unstructured":"GeneCards. VAMP7 Gene \u2013 Vesicle Associated Membrane\n                    Protein 7. Available from:\n                        https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=VAMP7\n                    [accessed: June 17, 2024]."},{"key":"R18","doi-asserted-by":"crossref","unstructured":"Bokor BA, T\u00f6r\u00f6k D, Horv\u00e1th E, et al. Diagnosis of\n                        MECP2 duplication in a child and prenatally.\n                        [MECP2-g\u00e9n-duplik\u00e1ci\u00f3 gyermekkori \u00e9s praenatalis\n                    diagn\u00f3zisa.] Orv Hetil. 2024; 165: 30\u201334. [Hungarian]","DOI":"10.1556\/650.2024.32956"}],"container-title":["Orvosi Hetilap"],"original-title":[],"link":[{"URL":"https:\/\/www.akjournals.com\/view\/journals\/650\/166\/8\/article-p313.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.akjournals.com\/downloadpdf\/journals\/650\/166\/8\/article-p313.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/www.akjournals.com\/downloadpdf\/journals\/650\/166\/8\/article-p313.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T11:30:56Z","timestamp":1785497456000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.akjournals.com\/view\/journals\/650\/166\/8\/article-p313.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,23]]},"references-count":18,"journal-issue":{"issue":"8"},"URL":"https:\/\/doi.org\/10.1556\/650.2025.33234","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,23]]}}}