| Autor: |
Vautier, Sabine, Mauillon, Jacques, Parodi, Nathalie, Bou, Jacqueline, Kasper, Edwige, Manase, Sandrine, Houdayer, Claude, Baert‐Desurmont, Stéphanie |
| Zdroj: |
American Journal of Medical Genetics. Part A; Sep2024, Vol. 194 Issue 9, p1-5, 5p |
| Abstrakt: |
Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps in the gastrointestinal tract, associated with pathogenic variants of BMPR1A and SMAD4. We present the description of SMAD4 mosaicism in a 30‐year‐old man who had caecum adenocarcinoma, 11 juvenile colon polyps and epistaxis since childhood. We conducted NGS polyposis and CRC panel analysis on DNA extracted from two polyps, revealing a likely pathogenic SMAD4 variant: NM_005359.5:c. 1600C>T, p.(Gln534*). This variant was then identified at a very low frequency on blood and normal colonic tissue, by targeted visualization of previously obtained NGS data. These findings support the presence of a likely pathogenic mosaic SMAD4 variant that aligns with the patient's phenotype. Given the relatively frequent occurrence of de novo SMAD4 mutations, somatic mosaicism could account for a significant proportion of sporadic JPS patients with unidentified pathogenic variants. This case underscores the diagnosis challenge of detecting mosaicism and emphasizes the importance of somatic analyses. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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