PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.

The Application of Clinical Genetics Pub Date : 2020-02-13 eCollection Date: 2020-01-01 DOI:10.2147/TACG.S232448

Jessica María Forero-Delgadillo, Daniela Cleves, Vanessa Ochoa, Hernando Londoño-Correa, Jaime Manuel Restrepo, José Antonio Nastasi-Catanese, Harry Pachajoa

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引用次数: 3

Abstract

Introduction: 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.

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发展中国家一名x连锁低磷佝偻病患者的PHEX基因突变

简介:x连锁低磷血症佝偻病是一种以肾磷酸盐丢失为特征的遗传性疾病，可导致生长障碍、佝偻病和骨软化症。这些情况的特点是磷酸盐平衡紊乱，这是骨形成所必需的。病例报告:一位女性患者表现为下肢骨畸形，关节突出，牙齿脱落。患者最初接受口服补钙和下肢矫形器治疗，临床结果不佳。PHEX基因测序显示致病变异c.1601C>T (p.Pro534Leu)。讨论:XLHR是由PHEX基因突变引起的;迄今为止，已有超过460种突变与该疾病有关。临床表现为下肢弯曲、生长减少、肌肉骨骼不适、牙脓肿和其他佝偻病的临床体征和症状。

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The Application of Clinical Genetics

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