The Experts below are selected from a list of 4530 Experts worldwide ranked by ideXlab platform
Graeme C M Black - One of the best experts on this subject based on the ideXlab platform.
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somatic mutation in mecp2 as a non fatal neurodevelopmental disorder in males
The Lancet, 2000Co-Authors: Jill Claytonsmith, P Watson, Simon C Ramsden, Graeme C M BlackAbstract:Rett syndrome is a cause of severe learning disability in girls and is associated with a characteristic history and movement disorder. It is an X-Linked Dominant condition associated with mutations of the MECP2 gene on the distal part of the X-chromosome. If present in a male conceptus, the mutation is usually lethal. We present evidence to show that males can be affected by Rett syndrome. In the boy presented, this situation came about because cells containing the MECP2 mutation existed alongside a normal cell line. Somatic mosaicism could explain the occurrence of other X-Linked Dominant Disorders in males, when they would normally be lethal.
Jill Claytonsmith - One of the best experts on this subject based on the ideXlab platform.
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somatic mutation in mecp2 as a non fatal neurodevelopmental disorder in males
The Lancet, 2000Co-Authors: Jill Claytonsmith, P Watson, Simon C Ramsden, Graeme C M BlackAbstract:Rett syndrome is a cause of severe learning disability in girls and is associated with a characteristic history and movement disorder. It is an X-Linked Dominant condition associated with mutations of the MECP2 gene on the distal part of the X-chromosome. If present in a male conceptus, the mutation is usually lethal. We present evidence to show that males can be affected by Rett syndrome. In the boy presented, this situation came about because cells containing the MECP2 mutation existed alongside a normal cell line. Somatic mosaicism could explain the occurrence of other X-Linked Dominant Disorders in males, when they would normally be lethal.
P Watson - One of the best experts on this subject based on the ideXlab platform.
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somatic mutation in mecp2 as a non fatal neurodevelopmental disorder in males
The Lancet, 2000Co-Authors: Jill Claytonsmith, P Watson, Simon C Ramsden, Graeme C M BlackAbstract:Rett syndrome is a cause of severe learning disability in girls and is associated with a characteristic history and movement disorder. It is an X-Linked Dominant condition associated with mutations of the MECP2 gene on the distal part of the X-chromosome. If present in a male conceptus, the mutation is usually lethal. We present evidence to show that males can be affected by Rett syndrome. In the boy presented, this situation came about because cells containing the MECP2 mutation existed alongside a normal cell line. Somatic mosaicism could explain the occurrence of other X-Linked Dominant Disorders in males, when they would normally be lethal.
Simon C Ramsden - One of the best experts on this subject based on the ideXlab platform.
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somatic mutation in mecp2 as a non fatal neurodevelopmental disorder in males
The Lancet, 2000Co-Authors: Jill Claytonsmith, P Watson, Simon C Ramsden, Graeme C M BlackAbstract:Rett syndrome is a cause of severe learning disability in girls and is associated with a characteristic history and movement disorder. It is an X-Linked Dominant condition associated with mutations of the MECP2 gene on the distal part of the X-chromosome. If present in a male conceptus, the mutation is usually lethal. We present evidence to show that males can be affected by Rett syndrome. In the boy presented, this situation came about because cells containing the MECP2 mutation existed alongside a normal cell line. Somatic mosaicism could explain the occurrence of other X-Linked Dominant Disorders in males, when they would normally be lethal.
Hadzsiev Kinga - One of the best experts on this subject based on the ideXlab platform.
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Súlyos epilepsziás encephalopathia hátterében azonosított MECP2-gén-mutáció fiúbetegben = MECP2 mutation in a male patient identified in the background of severe epileptic encephalopathy
'Akademiai Kiado Zrt.', 2019Co-Authors: Düh Adrienn, Till Ágnes, Bánfai Zsolt, Hegyi Márta, Melegh Béla, Hadzsiev KingaAbstract:Absztrakt: 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. | Abstract: 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
