Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.

ABSTRACT:

Background

Hypophosphataemic rickets (HR) comprise a clinically and genetically heterogeneous group of conditions, defined by renal-tubular phosphate wasting and consecutive loss of bone mineralisation. X-linked hypophosphataemia (XLH) is the most common form, caused by inactivating dominant mutations in PHEX, a gene encompassing 22 exons located at Xp22.1. XLH is treatable by anti-Fibroblast Growth Factor 23 antibody, while for other forms of HR such as therapy may not be indicated. Therefore, a genetic differentiation of HR is recommended.

Objective

To develop and validate a next-generation sequencing panel for HR with special focus on PHEX.

Design and methods

We designed an AmpliSeq gene panel for the IonTorrent PGM next-generation platform for PHEX and ten other H

SUBMITTER: Thiele S 

PROVIDER: S-EPMC7592643 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature