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Mutiple DICER1 -related lesions associated with a germline deep intronic mutation
- Source :
- Pediatric Blood & Cancer. 65:e27005
- Publication Year :
- 2018
- Publisher :
- Wiley, 2018.
-
Abstract
- 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.
- Subjects :
- Lung Diseases
Male
Ribonuclease III
0301 basic medicine
endocrine system
Adolescent
Germline
DEAD-box RNA Helicases
Sertoli-Leydig Cell Tumor
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Humans
Medicine
Nucleotide
Cyst
Child
Germ-Line Mutation
Aged
Sequence (medicine)
Ovarian Neoplasms
chemistry.chemical_classification
Messenger RNA
business.industry
Hematology
Prognosis
medicine.disease
Introns
Pedigree
030104 developmental biology
Oncology
chemistry
030220 oncology & carcinogenesis
Pediatrics, Perinatology and Child Health
RNA splicing
DICER1 Gene
Cancer research
Female
business
DNA
Goiter, Nodular
Subjects
Details
- ISSN :
- 15455009
- Volume :
- 65
- Database :
- OpenAIRE
- Journal :
- Pediatric Blood & Cancer
- Accession number :
- edsair.doi.dedup.....cd43414b00f0a87f14c4830e2c6590d1