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Integrated disease information for Scalp-Ear-Nipple Syndrome including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 78 data sources
www.malacards.orgI don’t have live access to the latest news feeds right now. Here’s what’s generally known about Scalp–ear–nipple syndrome (SEN) and how to find current updates.
Direct answer
- SEN is a rare autosomal-dominant condition caused mainly by mutations in the KCTD1 gene, with features including scalp aplasia/lesions, ear anomalies, and nipple/breast development issues. For the very latest news, check recent case reports or reviews in genetic and rare-disease journals and disease-specific resources.
Where to look for the latest information
- Medical genetics journals: search for case reports or reviews on Scalp–ear–nipple syndrome (SEN) and KCTD1 mutations; newer reports may discuss expanded phenotypes or novel mutations.
- Rare-disease resources: GARD (Genetic and Rare Diseases Information Center), NORD (National Organization for Rare Disorders), MedlinePlus Genetics, and Disease Ontology pages often summarize recent findings and ongoing research areas.
- Clinician-oriented databases: ClinVar and GTR for updated variant interpretations and available testing options; sometimes new genotype–phenotype correlations are published there.
- Professional society updates: Genetics/dermatology and pediatric journals often feature updates on SEN, including management recommendations and natural history.
How to interpret new findings
- If a report describes a novel KCTD1 variant, expect details on whether it disrupts protein interactions (e.g., with AP-2α) or affects BTB-domain function, which aligns with current mechanistic models.
- New phenotypes (e.g., hypotonia, developmental delay, or breast/nipple variability) can expand the clinical spectrum; consider whether these are in isolated families or broader cohorts.
Illustrative example
- A representative SEN case might describe a newborn with scalp lesions healing over time, facial/ear abnormalities, and nipple anomalies, with genetic testing confirming a KCTD1 missense mutation. Such reports help clinicians recognize SEN and pursue genetic testing and multidisciplinary care.
If you’d like, I can search for the latest peer-reviewed papers and summarize the most recent findings with citations. I can also tailor the search to your location in São Paulo and preferred sources (e.g., Brazilian journals or international reviews).