Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome
Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction: Incontinentia pigmenti and CHILD syndrome are genodermatoses characterized by an X-linked dominant inheritance pattern, resulting from pathogenic variants in the IKBKG and NSDHL genes, respectively. Methods: This study examines 3 pediatric patients exhibiting a compatible phenotype with inconclusive genetic studies, aiming to evaluate the diagnostic utility of optical genome mapping (OGM) in detecting alterations that could elucidate these conditions. Results: The identified structural variants consisted of deletions of varying sizes in the Xq28 cytoband, encompassing regions that contain exons. Conclusion: OGM demonstrates advantages over other techniques for identifying structural variants. This observation highlights how advancements in cytogenomics enhance the resolution with which cases previously inaccessible through conventional cytogenetics can now be investigated.
Source: Molecular Syndromology
DOI: 10.1159/000550167
Authors: Angela Vergara, Ivan Monge, Barbara Fernandez Garoz, Sergio Ruiz, Matilde Alonso, Antonio Torrelo, Nelmar Valentina Ortiz Cabrera
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7116200436