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Article

A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6 in a patient with hypomagnesemia with secondary hypocalcemia.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Nov 2021

Acar Sezer, Schlingmann Karl Peter, Nalbantoğlu Özlem, Köprülü Özge, Arslan Gülçin, Özkaya Beyhan, Özkan Behzat

Abstract excerpt

OBJECTIVES: Hypomagnesemia 1, intestinal (HOMG1) is characterized by neurological symptoms that occur due to hypocalcemia and hypomagnesemia and caused by mutations in the TRPM6. Most of the identified variants in TRPM6 lead to premature termination: nonsense, frameshift, deletion, and splice site mutations. CASE PRESENTATION: Herein, we report a 1.5 month-old case who presented with convulsion due to...

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Identifiers

PMID: 34261199
DOI: 10.1515/jpem-2021-0165

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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