P333: A 60-year-old female with PIK3R1-related SHORT syndrome: The oldest reported diagnosis and possible expanded adult phenotype

Genetics in Medicine Open 2026 Open access

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Authors: Paul Hillman, Sophia Bradley, Jessica Scarlett, Suad Siuffi Campo
DOI: 10.1016/j.gimo.2026.103827
Cited by: 0

Abstract

This patient represents the oldest documented individual with molecularly confirmed SHORT syndrome, significantly extending the known lifespan of affected individuals. Previous reports have primarily described pediatric cases or adults under 40 years, with limited longitudinal data. Her presentation illustrates the possible long-term multisystem consequences of PIK3R1 dysfunction, including severe insulin resistance, COPD, osteoporosis, and premature-aging features.

Fields of Study & Subjects

Genomics and Rare Diseases Immunodeficiency and Autoimmune Disorders PI3K/AKT/mTOR signaling in cancer

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103827–103827
Publication date
1 January 2026
Language
EN