Identification of a novel large casr deletion in a patient with familial hypocalciuric hypercalcemia

2Citations
Citations of this article
7Readers
Mendeley users who have this article in their library.

Abstract

Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion and inappropriately normal or mildly elevated parathyroid hormone (PTH) concentrations. We performed a clinical and genetic characterization of one patient suspected of familial hypocalciuric hypercalcemia type I. Patient presented persistent hypercalcemia with normal PTH and 25-hydroxyvitamin D levels. The CASR was screened for mutations by PCR followed by direct Sanger sequencing and, in order to detect large deletions or duplications, multiplex ligation-dependent probe amplification (MLPA) was used. One large deletion of 973 nucleotides in heterozygous state (c.1733-255_2450del) was detected. This is the first large deletion detected by the MLPA technique in the CASR gene.

Cite

CITATION STYLE

APA

García-Castaño, A., Madariaga, L., Azriel, S., de Nanclares, G. P., de LaPiscina, I. M., Martínez, R., … Castaño, L. (2018). Identification of a novel large casr deletion in a patient with familial hypocalciuric hypercalcemia. Endocrinology, Diabetes and Metabolism Case Reports, 2018(1), 1–5. https://doi.org/10.1530/EDM-18-0114

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free