ArticleAmerican journal of human genetics1997
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 115 citations in OpenAlex.
- Rett Syndrome: The Emerging Landscape of Treatment Strategies.CNS drugs · 2024Review
- Rett Syndrome andNeuropsychiatric disease and treatment · 2022Review
- A bibliometrics analysis and visualization of autism spectrum disorder.Frontiers in psychiatry · 2022Article
- Deciphering the roles of glycogen synthase kinase 3 (GSK3) in the treatment of autism spectrum disorder and related syndromes.Molecular biology reports · 2021Review
- Choline Rescues Behavioural Deficits in a Mouse Model of Rett Syndrome by Modulating Neuronal Plasticity.Molecular neurobiology · 2019Article
- An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation.Molecular genetics & genomic medicine · 2019Article
- Review
- Progress in Rett Syndrome: from discovery to clinical trials.Wiener medizinische Wochenschrift (1946) · 2016Article
- Article
- Rett Syndrome: Reaching for Clinical Trials.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2015Review
- Monozygotic twins with Rett syndrome: Phenotyping the first two years of life.Journal of developmental and physical disabilities · 2014Article
- 2012 William Allan Award: Adventures in cytogenetics.American journal of human genetics · 2013Article
- Rett Syndrome.Molecular syndromology · 2012Article
- De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention.Genome medicine · 2012Review
- X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.Journal of applied genetics · 2011Article
- De novo deletion in MECP2 in a monozygotic twin pair: a case report.BMC medical genetics · 2011Article
- Variable phenotypic expression of a MECP2 mutation in a family.Journal of neurodevelopmental disorders · 2009Article
- MECP2 mutations in males.Journal of medical genetics · 2007Review
- Rett syndrome and MeCP2: linking epigenetics and neuronal function.American journal of human genetics · 2002Review
- Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations.BMC medical genetics · 2002Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Although familial recurrences of Rett syndrome (RTT) comprise only approximately 1% of the reported cases, it is these cases that hold the key for the understanding of the genetic basis of the disorder. Families in which RTT occurs in mother and daughter, aunt and niece, and half sisters are consistent with dominant inheritance and variable expressivity of the phenotype. Recurrence of RTT in sisters is likely due to germ-line mosaicism in one of the parents, rather than to recessive inheritance. The exclusive occurrence of classic RTT in females led to the hypothesis that it is X-linked and may be lethal in males. In an X-linked dominant disorder, unaffected obligate-carrier females would be expected to show nonrandom or skewed inactivation of the X chromosome bearing the mutant allele. We investigated the X chromosome inactivation (XCI) patterns in the female members of a newly identified family with recurrence of RTT in a maternal aunt and a niece. Skewing of XCI is present in the obligate carrier in this family, supporting the hypothesis that RTT is an X-linked disorder. However, evaluation of the XCI pattern in the mother of affected half sisters shows random XCI, suggesting germ-line mosaicism as the cause of repeated transmission in this family. To determine which regions of the X chromosome were inherited concordantly/discordantly by the probands, we genotyped the individuals in the aunt-niece family and two previously reported pairs of half sisters. These combined exclusion-mapping data allow us to exclude the RTT locus from the interval between DXS1053 in Xp22.2 and DXS1222 in Xq22.3. This represents an extension of the previous exclusion map.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.