Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
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...
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| Veröffentlicht in: | The Lancet (British edition) 2000-09, Vol.356 (9232), p.830-832 |
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| creator | Clayton-Smith, J Watson, P Ramsden, S Black, GCM |
| description | 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. |
| doi_str_mv | 10.1016/S0140-6736(00)02661-1 |
| format | Article |
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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.</description><identifier>ISSN: 0140-6736</identifier><identifier>EISSN: 1474-547X</identifier><identifier>DOI: 10.1016/S0140-6736(00)02661-1</identifier><identifier>PMID: 11022934</identifier><identifier>CODEN: LANCAO</identifier><language>eng</language><publisher>London: Elsevier Ltd</publisher><subject>Biological and medical sciences ; Child development ; Chromosomal Proteins, Non-Histone ; Degenerative and inherited degenerative diseases of the nervous system. 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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.</description><subject>Biological and medical sciences</subject><subject>Child development</subject><subject>Chromosomal Proteins, Non-Histone</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. 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| identifier | ISSN: 0140-6736 |
| ispartof | The Lancet (British edition), 2000-09, Vol.356 (9232), p.830-832 |
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| language | eng |
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| subjects | Biological and medical sciences Child development Chromosomal Proteins, Non-Histone Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA-Binding Proteins - genetics Gene Amplification Genes Humans Infant, Newborn Male Males Medical disorders Medical sciences Methyl-CpG-Binding Protein 2 Mosaicism Mutation Neurodevelopmental disorders Neurology Polymerase Chain Reaction Repressor Proteins Rett Syndrome - genetics Rett Syndrome - physiopathology |
| title | Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males |
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