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Identification of A Novel Mutation of SHORT Syndrome: A Case Report
Quynh Thi Vu Huynh1,2, Tuong Trong Luong1, Ho Tran Ban3,4
1Department of Pediatrics University of Medicine and Pharmacy Ho Chi Minh City Vietnam.
Clinical Case Reports
|August 27, 2025
Abstract:
SHORT syndrome is a rare inherited disease with 34 identified pathogenic or likely pathogenic PIK3R1 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.
Keywords:
endocrinology and metabolic disordersgenetics and genomicshealthcare managementpediatrics and adolescent medicine
