PIK3R1 GENE ANALYSIS IN SHORT SYNDROME
SHORT syndrome is a rare autosomal dominant multisystem disease characterised by short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay. Affected individuals tend to have low birth weight and be shorter than other family members, and often have lipoatrophy primarily affecting the face, arms and chest. A distinctive triangular face is seen with a prominent forehead and ocular depression, and dental anomalies are frequently reported. Eye abnormalities are common, with Reiger anomaly being associated with glaucoma and vision loss. Other reported symptoms of SHORT syndrome include immune system abnormalities, nephrocalcinosis, inguinal hernia, insulin resistance and diabetes (Dyment et al. 2013. Am J Hum Genet. 11: 158-66). SHORT syndrome is caused by mutations in the PIK3R1 gene (Klatka et al. 2017. Ital J Pediatr. 43; Avila et al. 2015. Clin Genet. 89,501). The PIK3RI gene produces a regulatory unit of the PI3K enzyme which plays a role in cell signalling, cell migration and transport, protein production and hormone regulation. The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.