Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.

ABSTRACT:

Context

Two Argentinean siblings (a boy and a girl) from a nonconsanguineous family presented with hypercalcemia, hypercalciuria, hypophosphatemia, low parathyroid hormone (PTH), and nephrocalcinosis.

Objective

The goal of this study was to identify genetic causes of the clinical findings in the two siblings.

Design

Whole exome sequencing was performed to identify disease-causing mutations in the youngest sibling, and a candidate variant was screened in other family members by Sanger sequencing. In vitro experiments were conducted to determine the effects of the mutation that was identified.

Patients and other participants

Affected siblings (2 y.o. female and 10 y.o male) and their parents were included in the study. Informed consent was obtained for genetic st

SUBMITTER: Rajagopal A 

PROVIDER: S-EPMC4223446 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature