Mutiple DICER1-related lesions associated with a germline deep intronic mutation.
PEDIATRIC BLOOD & CANCER(2018)
摘要
Germline DICER1 pathogenic variants predispose to numerous benign and malignant tumors. In this report, we describe DICER1 gene analysis in an adolescent diagnosed with multinodular goiter, ovarian Sertoli-Leydig cell tumor, and lung cyst. DICER1 mutational screening at the DNA level failed to detect any pathogenic variant. Subsequent messenger RNA (mRNA) analysis revealed a 132 nucleotide intronic sequence exonization. This truncating event was caused by a deep intronic mutation generating a de novo acceptor splice site. This study demonstrates that some undetected DICER1 mutations should be investigated at the mRNA level.
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关键词
cryptic exon,deep intronic mutation,DICER1,lung cyst,multinodular goiter,ovarian Sertoli-Leydig cell tumor
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