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A MissenseGlial Cells Missing Homolog B(GCMB) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism

13 May 2010

Abstract excerpt

CONTEXT: Glial cells missing B (GCMB), the mammalian homolog of the Drosophila GCM gene, encodes a 506-amino-acid parathyroid-specific transcription factor. To date, only two different heterozygous GCMB mutations have been reported in three kindreds with autosomal dominant hypoparathyroidism. OBJECTIVE: Our objective was to investigate a family with autosomal dominant hypoparathyroidism for PTH, CaSR, and GCMB...

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Identifiers

PMID: 20463099
DOI: 10.1210/jc.2009-2532

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