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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the MECP2 gene cause PPM-X syndrome. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. The MeCP2 protein likely plays a role in maintaining connections (synapses) between nerve cells. The MeCP2 protein may also control the production of different versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of PPM-X syndrome.</p><p>Some MECP2 gene mutations that cause PPM-X syndrome disrupt attachment (binding) of the MeCP2 protein to DNA, and other mutations alter the 3-dimensional shape of the protein. These mutations lead to the production of an MeCP2 protein that cannot properly interact with DNA or other proteins and so cannot control the expression of genes. It is unclear how MECP2 gene mutations lead to the signs and symptoms of PPM-X syndrome, but misregulation of genes in the brain likely plays a role.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/ppm-x-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes PPM-X syndrome?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/ppm-x-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"ppm-x-syndrome","sourceDocuments":[{"name":"PPM-X syndrome","reviewed":"2011-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:20.774177+00:00","label":"Causes","pageSha256":"697882e11a62ca55a5b48cdf9761ccf7d9445b37466858c7205074884127faa5","sourceUrl":"https://medlineplus.gov/genetics/condition/ppm-x-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/ppm-x-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"PPM-X syndrome"},"schemaVersion":1}