ArticleJournal of medical genetics2001
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.
Article in Journal of medical genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 59 citations in OpenAlex.
- Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.Cold Spring Harbor molecular case studies · 2021Article
- Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.International journal of molecular sciences · 2021Review
- Review
- Mutation in the MICOS subunit geneJournal of medical genetics · 2021Article
- Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a NovelFrontiers in pediatrics · 2021Article
- A new sex-specific underlying mechanism for female schizophrenia: accelerated skewed X chromosome inactivation.Biology of sex differences · 2020Article
- X Chromosome Inactivation in Opioid Addicted Women.Basic and clinical neuroscience · 2015Article
- Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.Orphanet journal of rare diseases · 2011Review
- De novo deletion in MECP2 in a monozygotic twin pair: a case report.BMC medical genetics · 2011Article
- Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene.Genomic medicine · 2008Article
- X-chromosome inactivation patterns in females with Prader-Willi syndrome.American journal of medical genetics. Part A · 2007Article
- Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.Journal of medical genetics · 2007Article
- Brief report: non-random X chromosome inactivation in females with autism.Journal of autism and developmental disorders · 2005Article
- Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.American journal of human genetics · 2004Article
- Rett syndrome: the complex nature of a monogenic disease.Journal of molecular medicine (Berlin, Germany) · 2003Review
- A locus for bilateral perisylvian polymicrogyria maps to Xq28.American journal of human genetics · 2002Article
- Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.American journal of human genetics · 2002Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRett syndrome is a neurodevelopmental disorder affecting only girls; 99.5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2 gene were identified in approximately 70-80% of sporadic Rett syndrome cases.
methodsWe have screened the MECP2 gene coding region for mutations in five familial cases of Rett syndrome and studied the patterns of X chromosome inactivation (XCI) in each girl.
resultsWe found a mutation in MECP2 in only one family. In the four families without mutation in MECP2, we found that (1) all mothers exhibit a totally skewed pattern of XCI; (2) six out of eight affected girls also have a totally skewed pattern of XCI; and (3) it is the paternally inherited X chromosome which is active in the patients with a skewed pattern of XCI. Given that the skewing of XCI is inherited in our families, we genotyped the whole X chromosome using 32 polymorphic markers and we show that a locus potentially responsible for the skewed XCI in these families could be located on the short arm of the X chromosome.
conclusionThese data led us to propose a model for familial Rett syndrome transmission in which two traits are inherited, an X linked locus abnormally escaping X chromosome inactivation and the presence of a skewed XCI in carrier women.
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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.