The Application of Clinical Genetics (Feb 2020)
PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country
Abstract
Jessica María Forero-Delgadillo,1,2 Daniela Cleves,2,3 Vanessa Ochoa,1,2 Hernando Londoño-Correa,4 Jaime Manuel Restrepo,4 José Antonio Nastasi-Catanese,4,5 Harry Pachajoa2,5 1Pediatric Nephrology Fellow, Universidad Icesi-Fundación Valle de Lili, Cali, Colombia; 2Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia; 3Pediatrics Resident, Universidad Icesi-Fundación Valle de Lili, Cali, Colombia; 4Pediatric Nephrology Department, Fundación Valle del Lili, Cali, Colombia; 5Clinical Genetics Department, Fundación Valle del Lili, Cali, ColombiaCorrespondence: Harry PachajoaGenetics Division, Fundación Valle del Lili, Carrera 98 # 18-49, Cali, Valle del Cauca, ColombiaTel +57 2 3319090Email [email protected]: X-linked hypophosphatemic rickets is part of a larger group of hereditary diseases characterized by renal phosphate loss, which causes growth disorders, rickets, and osteomalacia. These conditions are characterized by disorders in phosphate equilibrium, which is essential for bone formation.Case Report: A female patient presented with bone deformities of the inferior extremities, prominent joints, and loss of teeth. She received initial management with oral calcium and orthotics in inferior extremities, with poor clinical outcome. PHEX gene sequencing revealed a pathogenic variant c.1601C>T (p.Pro534Leu).Discussion: XLHR is caused by mutations in the PHEX gene; to date, more than 460 mutations have been associated with the disease. Clinically, it is characterized by bowing of the lower extremities, decreased growth, musculoskeletal complaints, dental abscesses, and other clinical signs and symptoms of rickets.Keywords: XLHR, Phex gene, Colombia, pediatric, rickets
