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Genetic analysis of three families with X-linked dominant hypophosphatemic rickets by Xinfu Lin; Yaobin Zhu; Jiewei Luo; Jianbin Huang is a Medicine article available to read on EtoBox.

What is Genetic analysis of three families with X-linked dominant hypophosphatemic rickets about?

Background: Hypophosphatemic rickets, including familial hypophosphatemic vitamin D-resistant rickets, which commonly manifests in childhood, is generally hereditary. X-linked dominant hypophosphatemic rickets (XLH, MIM307800), caused by inactivating mutations in the PHEX gene, is the most common form. This study aimed to identify the gene mutations responsible for three cases of XLH and its clinical phenotype. Methods: We conducted a genetic diagnosis and clinical phenotypic linkage analysis of three pedigrees with XLH. Three probands finally diagnosed as XLH were analyzed by next-generation sequencing (NGS). Sanger sequencing was used for mutation scanning in other family members. Results: For the three patients with XLH, the age of onset ranged from 1.5 to 2 years and their heights were less than three standard deviations (SDs) below the median. The patients exhibited curved deformities in both lower limbs, hypophosphatemia, elevated serum FGF23 levels and elevated levels of blood alkaline phosphatase, with normal levels of blood parathyroid hormone (PTH) and calcium. X-ray analysis of the limbs and chest revealed characteristic rickets signs. Three candidate pathogenic mutation

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Author

Xinfu Lin; Yaobin Zhu; Jiewei Luo; Jianbin Huang

Publisher

Walter de Gruyter GmbH

Published

2018

Language

EN

Field

Medicine (Health Sciences)