ArticleOrphanet journal of rare diseases2012
Clinical expression of Menkes disease in females with normal karyotype.
Article in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 45 citations in OpenAlex.
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Restoration of Genetic Code in Macular Mouse Fibroblasts via APOBEC1-Mediated RNA Editing.Biomolecules · 2025Article
- Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Observational
- Toward Enhanced Antioxidant and Protective Potential: Conjugation of Corn Cob Xylan with Gallic Acid as a Novel Approach.International journal of molecular sciences · 2024Article
- Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.Scientific reports · 2024Article
- Antioxidant Activity of Fucoidan Modified with Gallic Acid Using the Redox Method.Marine drugs · 2022Article
- Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Journal of cardiovascular development and disease · 2022Review
- Article
- Dosage Compensation in Females with X-Linked Metabolic Disorders.International journal of molecular sciences · 2021Review
- The Role of Fe, Zn, and Cu in Pregnancy.Biomolecules · 2020Review
- ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.Computational and structural biotechnology journal · 2020Article
- Urological Problems in Patients with Menkes Disease.Journal of Korean medical science · 2019Article
- Disorders of metal metabolism.Translational science of rare diseases · 2017Review
- Mosaicism in Cutaneous Disorders.Annual review of genetics · 2017Review
- Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures.Frontiers in molecular neuroscience · 2016Article
- Menkes disease: what a multidisciplinary approach can do.Journal of multidisciplinary healthcare · 2016Review
- Menkes disease with discordant phenotype in female monozygotic twins.American journal of medical genetics. Part A · 2015Article
- Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.Stem cell research & therapy · 2015Article
- Menkes disease in affected females: the clinical disease spectrum.American journal of medical genetics. Part A · 2015Review
- Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.Metabolic brain disease · 2015Article
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Authors and funding
14 authors at 12 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMenkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected. In the largest cohort of MD patients reported so far which consists of 517 families we identified 9 neurologically affected carriers with normal karyotypes.
methodsWe investigated at-risk females for mutations in the ATP7A gene by sequencing or by multiplex ligation-dependent probe amplification (MLPA). We analyzed the X-inactivation pattern in affected female carriers, unaffected female carriers and non-carrier females as controls, using the human androgen-receptor gene methylation assay (HUMAR).
resultsThe clinical symptoms of affected females are generally milder than those of affected boys with the same mutations. While a skewed inactivation of the X-chromosome which harbours the mutation was observed in 94% of 49 investigated unaffected carriers, a more varied pattern was observed in the affected carriers. Of 9 investigated affected females, preferential silencing of the normal X-chromosome was observed in 4, preferential X-inactivation of the mutant X chromosome in 2, an even X-inactivation pattern in 1, and an inconclusive pattern in 2. The X-inactivation pattern correlates with the degree of mental retardation in the affected females. Eighty-one percent of 32 investigated females in the control group had moderately skewed or an even X-inactivation pattern.
conclusionThe X- inactivation pattern alone cannot be used to predict the phenotypic outcome in female carriers, as even those with skewed X-inactivation of the X-chromosome harbouring the mutation might have neurological symptoms.
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