ArticleAmerican journal of human genetics1996
High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
29 citing papers in PubMed, 89 citations in OpenAlex.
- Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.Pediatric neurology · 2021Article
- NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.BMC medical genetics · 2020Article
- The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019Article
- Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review.The Neurohospitalist · 2019Article
- Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype.American journal of medical genetics. Part A · 2017Article
- [MECP2 gene and MECP2-related diseases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Review
- Analysis of the Serotonergic System in a Mouse Model of Rett Syndrome Reveals Unusual Upregulation of Serotonin Receptor 5b.Frontiers in molecular neuroscience · 2017Article
- Progress in Rett Syndrome: from discovery to clinical trials.Wiener medizinische Wochenschrift (1946) · 2016Article
- Refining the Y chromosome phylogeny with southern African sequences.Human genetics · 2016Article
- Investigating the specific core genetic-and-epigenetic networks of cellular mechanisms involved in human aging in peripheral blood mononuclear cells.Oncotarget · 2016Article
- GlyT2-Dependent Preservation of MECP2-Expression in Inhibitory Neurons Improves Early Respiratory Symptoms but Does Not Rescue Survival in a Mouse Model of Rett Syndrome.Frontiers in physiology · 2016Article
- Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.Journal of medical case reports · 2015Article
- The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.American journal of human genetics · 2006Article
- Rett syndrome: clinical review and genetic update.Journal of medical genetics · 2005Review
- Rett syndrome and MeCP2: linking epigenetics and neuronal function.American journal of human genetics · 2002Review
- Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.Journal of medical genetics · 2001Article
- MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.American journal of human genetics · 2001Article
- Rett syndrome and the MECP2 gene.Journal of medical genetics · 2001Review
- Mutation screening in Rett syndrome patients.Journal of medical genetics · 2000Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
In this paper I suggest that a vastly higher rate of de novo mutations in males than in females would explain some, if not most, X-linked dominant disorders associated with a low incidence of affected males. It is the inclusion of the impact of a high ratio of male:female de novo germ-line mutations that makes this model new and unique. Specifically, it is concluded that, if an X-linked disorder results in a dominant phenotype with a significant reproductive disadvantage (genetic lethality), affected females will, in virtually all cases, arise from de novo germ-line mutations inherited from their fathers rather than from their mothers. Under this hypothesis, the absence of affected males is explained by the simple fact that sons do not inherit their X chromosome (normal or abnormal) from their fathers. Because females who are heterozygous for a dominant disorder will be clinically affected and will, in most cases, either be infertile or lack reproductive opportunities, the mutant gene will not be transmitted by them to the next generation (i.e., it will be a genetic lethal). This, not gestational lethality in males, may explain the absence of affected males in most, if not all, of the 13 known X-linked dominant diseases characterized by high ratios of affected female to male individuals. Evidence suggesting that this mechanism could explain the findings in the Rett syndrome is reviewed in detail.
Indexed as
Identifiers
8651313PMC1915043W1973553284What OpenQuestion holds
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.