[MECP2 mutation in a male patient identified in the background of severe epileptic encephalopathy].
Authors of this article are:
Düh A, Till Á, Bánfai Z, Hegyi M, Melegh B, Hadzsiev K.
A summary of the article is shown below:
in English, HungarianAbsztrakt: A szerzők egy negatív családi anamnézisű, súlyos, neonatalis kezdetű epilepsziás encephalopathiában szenvedő, jelenleg kétéves fiúgyermek esetét mutatják be. A terápiarezisztens epilepszia és az igen súlyos fejlődésbeli elmaradás etiológiáját kiterjedt klinikai vizsgálatokkal sem sikerült tisztázni. Genetikai okot feltételezve, külföldi genetikai laboratóriumban 128 gént tartalmazó újgenerációs szekvenálási (NGS-) panelvizsgálatot indikáltak epilepsziás encephalopathiát okozó betegségek irányában. A vizsgálat egy eddig ismeretlen hemizigóta misszensz mutációt igazolt a MECP2-génben. A szerzők az esetbemutatás kapcsán áttekintik a lányokban klasszikusan Rett-szindrómát okozó, a MECP2-gén mutációi által előidézett idegfejlődési rendellenességek spektrumát fiúkban. Más, X-hez kötött domináns öröklődésű betegségekhez hasonlóan sokáig úgy gondolták, hogy a MECP2-gén-mutációt hordozó fiúmagzatok életképtelenek, napjainkra azonban ez a nézet megváltozott. A szerzők úgy tudják, hogy betegük az első magyar fiúgyermek, akinél a MECP2-gén mutációja igazolódott. Orv Hetil. 2019; 160(51): 2036–2039.Here we report on a severe, neonatal onset epileptic encephalopathy manifested in a currently 2-year-old boy with no family history of neurological disease. Extensive clinical investigations were unable to clarify the etiology of the infant’s condition characterized by drug-resistant seizures and markedly delayed developmental skills. As in this class of disorders a genetic cause might be identified, a next-generation sequencing (NGS) epilepsy panel examination consisting of 128 genes was initiated for a correct diagnosis. The genetic analysis identified a previously undescribed hemizygous missense mutation in the MECP2 gene. Similarly to other, X-linked dominant disorders, Rett syndrome was originally hypothesized to be lethal in males. This theory, however, has been revised. The aim of this report is to review the wide spectrum of neurodevelopmental diseases observed in male patients carrying mutations in the MECP2 gene classically associated with Rett syndrome in girls. To the author’s knowledge, this is the first report in Hungary to document MECP2 mutation of a male patient diagnosed by molecular genetic testing. Orv Hetil. 2019; 160(51): 2036-2039.
Check out the article’s website on Pubmed for more information:
This article is a good source of information and a good way to become familiar with topics such as: Child, Preschool; Humans; Hungary; Male; Mental Retardation, X-Linked; Methyl-CpG-Binding Protein 2; Molecular Biology; Mutation; Phenotype; Rett Syndrome.
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