Identification of A Novel Mutation of SHORT Syndrome: A Case Report
SHORT syndrome is a rare inherited disease with 34 identified pathogenic or likely pathogenic <i>PIK3R1</i> mutations. The genotype-phenotype relationship remains inconsistent. Our case presents the first novel duplication that affects up to 25 nucleotides and truncates the PI3K protein, contributing valuable data to genetic understanding and characterization worldwide.
Authors
- Quynh Thi Vu Huynh (ORCID: https://orcid.org/0000-0002-9409-6693)
- Van Huy Tran (ORCID: https://orcid.org/0000-0002-2155-2555)
- Ho Tran Ban (ORCID: https://orcid.org/0009-0005-0685-7341)
- Tuong Trong Luong
Institutions
- University of Medicine and Pharmacy at Ho Chi Minh City (VN)
- Children's Hospital 2 (VN)
- Agricultural Genetics Institute (VN)
- Children's Hospital 1 (VN)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-08-25
- DOI
- https://doi.org/10.1002/ccr3.70820
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00