A novel variant in an intron splicing enhancer associated with familial growth hormone deficiency
Our familial case reiterates the importance of intronic variants in the splicing enhancer region as a cause of IGHD. Consideration should be given to sequencing the splicing enhancer region in intron 3 of GH1 for patients who undergo genetic testing for growth hormone deficiency.
Authors
- Mariam Gangat (ORCID: https://orcid.org/0000-0001-5264-7947)
- Sally Radovick (ORCID: https://orcid.org/0000-0002-8391-8583)
- Bethany L. Murphy (ORCID: https://orcid.org/0000-0001-8880-4406)
- Youn Hee Jee (ORCID: https://orcid.org/0000-0001-7227-5925)
- Jennifer L. Miller (ORCID: https://orcid.org/0000-0003-0539-0223)
Institutions
- Rutgers, The State University of New Jersey (US)
- Northwestern University (US)
- Children's National (US)
- University of Arizona (US)
- George Washington University (US)
- Arizona Science Center (US)
- Johnson University (US)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
Publication Details
- Journal
- Hormone Research in Paediatrics
- Published
- 2025-03-08
- DOI
- https://doi.org/10.1159/000545037
- Primary Topic
- RNA Research and Splicing
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development