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Article: MECP2 mutation in male patients with non-specific X-linked mental retardation

TitleMECP2 mutation in male patients with non-specific X-linked mental retardation
Authors
Issue Date2000
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/febslet
Citation
Febs Letters, 2000, v. 481 n. 3, p. 285-288 How to Cite?
AbstractIn contrast to the preponderance of affected males in families with X- linked mental retardation, Rett syndrome (RTT) is a neurological disorder occurring almost exclusively in females. The near complete absence of affected males in RTT families has been explained by the lethal effect of an X-linked gene mutation in hemizygous affected males. We report here on a novel mutation (A140V) in the MECP2 gene detected in one female with mild mental retardation. In a family study, the A140V mutation was found to segregate in the affected daughter and in four adult sons with severe mental retardation. These results indicate that MECP2 mutations are not necessarily lethal in males and that they can be causative of non-specific X-linked mental retardation. (C) 2000 Federation of European Biochemical Societies.
Persistent Identifierhttp://hdl.handle.net/10722/148407
ISSN
2015 Impact Factor: 3.519
2015 SCImago Journal Rankings: 2.026
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorOrrico, Aen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorGalli, Len_US
dc.contributor.authorDotti, MTen_US
dc.contributor.authorHayek, Gen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorPoon, PMKen_US
dc.contributor.authorZappella, Men_US
dc.contributor.authorFederico, Aen_US
dc.contributor.authorSorrentino, Ven_US
dc.date.accessioned2012-05-29T06:12:46Z-
dc.date.available2012-05-29T06:12:46Z-
dc.date.issued2000en_US
dc.identifier.citationFebs Letters, 2000, v. 481 n. 3, p. 285-288en_US
dc.identifier.issn0014-5793en_US
dc.identifier.urihttp://hdl.handle.net/10722/148407-
dc.description.abstractIn contrast to the preponderance of affected males in families with X- linked mental retardation, Rett syndrome (RTT) is a neurological disorder occurring almost exclusively in females. The near complete absence of affected males in RTT families has been explained by the lethal effect of an X-linked gene mutation in hemizygous affected males. We report here on a novel mutation (A140V) in the MECP2 gene detected in one female with mild mental retardation. In a family study, the A140V mutation was found to segregate in the affected daughter and in four adult sons with severe mental retardation. These results indicate that MECP2 mutations are not necessarily lethal in males and that they can be causative of non-specific X-linked mental retardation. (C) 2000 Federation of European Biochemical Societies.en_US
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/febsleten_US
dc.relation.ispartofFEBS Lettersen_US
dc.subject.meshAdulten_US
dc.subject.meshAutistic Disorder - Geneticsen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChromosomal Proteins, Non-Histoneen_US
dc.subject.meshDna-Binding Proteins - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshHumansen_US
dc.subject.meshIntellectual Disability - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMethyl-Cpg-Binding Protein 2en_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshPedigreeen_US
dc.subject.meshRepressor Proteins - Geneticsen_US
dc.subject.meshRett Syndrome - Geneticsen_US
dc.subject.meshSex Factorsen_US
dc.subject.meshX Chromosome - Geneticsen_US
dc.titleMECP2 mutation in male patients with non-specific X-linked mental retardationen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/S0014-5793(00)01994-3en_US
dc.identifier.pmid11007980-
dc.identifier.scopuseid_2-s2.0-18244432131en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-18244432131&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume481en_US
dc.identifier.issue3en_US
dc.identifier.spage285en_US
dc.identifier.epage288en_US
dc.identifier.isiWOS:000089565500017-
dc.publisher.placeNetherlandsen_US

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