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A Mosaic PIK3CA Mutation in a Moroccan Female: Exploring the Diagnostic Challenges of PIK3CA-Related Overgrowth Spectrum
The PIK3CA-related overgrowth spectrum (PROS) encompasses a group of rare disorders characterized by the overgrowth of various body parts, driven by mutations in the PIK3CA gene. This study presents a case of a Moroccan female patient with PROS, demonstrating a phenotype associated with genetic mosa...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10150574/ https://www.ncbi.nlm.nih.gov/pubmed/37139028 http://dx.doi.org/10.7759/cureus.36996 |
Sumario: | The PIK3CA-related overgrowth spectrum (PROS) encompasses a group of rare disorders characterized by the overgrowth of various body parts, driven by mutations in the PIK3CA gene. This study presents a case of a Moroccan female patient with PROS, demonstrating a phenotype associated with genetic mosaicism in the PIK3CA gene. A multidisciplinary approach, involving clinical examination, radiological assessment, and genetic and bioinformatic analyses, was employed for diagnosis and management. Next-generation sequencing and Sanger sequencing identified a rare variant, c.353G>A, in exon 3 of the PIK3CA gene, not detected in leukocyte DNA but confirmed in tissue biopsy samples. The comprehensive analysis of this case furthers our understanding of PROS and highlights the importance of a multidisciplinary approach to the diagnosis and management of this rare disorder. |
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