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De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism.

ABSTRACT: Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions, and mutations in this gene can be detected via changes in serum calcium level. The activating mutation of the CaSR gene results in familial or sporadic ADHH. Most activating mutations of the CaSR gene are reportedly de novo missense mutations. This is the first case report of a novel activating variant of the CaSR gene in a neonate with congenital hypoparathyroidism with hypomagnesemia and hypercalciuria. We also report the 3-month follow-up management of the patient.

SUBMITTER: Moon JE

PROVIDER: S-EPMC6057017 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism.

Moon Jung-Eun JE Lee Su-Jeong SJ Park Suk-Hyun SH Kim Jinsup J Jin Dong-Kyu DK Ko Cheol Woo CW

Annals of pediatric endocrinology & metabolism 20180620 2

Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions, and mutations in this gene can be detected via changes in serum calcium level. The activating mutation of the CaSR gene results in familial or sporadic ADHH. Most activating mutations of the CaSR gene are reportedly de novo missense mutati ...[more]

PMID: 29969884

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