Molecular syndromology · 2025
Diagnostic Utility of Optical Genome Mapping in X-Linked Dominant Genodermatoses: Incontinentia Pigmenti and CHILD Syndrome.
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Vergara Angela, Monge Ivan, Garoz Barbara Fernandez, Ruiz Sergio, Alonso Matilde, Torrelo Antonio, Ortiz Cabrera Nelmar Valentina
Аннотация
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.
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.