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• W2053974882 abstract "Context: The majority of mutations responsible for isolated GH type II deficiency (IGHD II) lead to dominant negative deleteriously increased levels of the GH1 exon 3 skipped transcripts. Objective: The aim of this study was the characterization of the molecular defect causing a familial case of IGHD II. Patients: A 2-yr-old child and her mother with severe growth failure at diagnosis (−5.8 and −6.9 sd score, respectively) and IGHD were investigated for the presence of GH1 mutations. Results: We identified a novel 22-bp deletion in IVS3 (IVS3 del+56–77) removing the putative branch point sequence (BPS). Analysis of patients’ lymphocyte mRNA showed an excess exon 3 skipping. The mutated allele transfected into rat pituitary cells produced four differently spliced products: the exon 3 skipped mRNA as the main product and lower amounts of the full-length cDNA and of two novel mRNA aberrant isoforms, one with the first 86 bases of exon 4 deleted and the other lacking the entire exon 4. A mutagenized construct lacking exclusively the 7 bp of the BPS only generated the exon 4 skipped and the full-length isoforms. The presence of the full-length transcript in the absence of the canonical BPS points to an alternative BPS in IVS3. Conclusion: The IVS3 del+56–77 mutation, causing IGHD II in this family, has two separate effects on mRNA processing: 1) exon 3 skipping, analogous to most described cases of IGHD II, an effect likely caused by the reduction in size of the IVS3, and 2) partial or total exon 4 skipping, as a result of the removal of the BPS." @default.
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• W2053974882 date "2006-03-01" @default.
• W2053974882 modified "2023-09-27" @default.
• W2053974882 title "A Novel Deletion in theGH1Gene Including the IVS3 Branch Site Responsible for Autosomal Dominant Isolated Growth Hormone Deficiency" @default.
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• W2053974882 doi "https://doi.org/10.1210/jc.2005-1703" @default.
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