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Journal of Pediatric Endocrinology and Metabolism

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A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism

1 / Susan M. Kirwin2 / Katia Sol-Church2 / Michael A. Levine3

1Division of Endocrinology, Nemours/Alfred I. duPont Hospital for Children, P.O. Box 269, Wilmington, DE 19803, USA

2Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

3The Children’s Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA

Corresponding author: Daniel Doyle, MD, Division of Endocrinology, Nemours/Alfred I. duPont Hospital for Children, P.O. Box 269, Wilmington, DE 19803, USA, Phone: + 1 3026515965, Fax: + 1 3026515419

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 25, Issue 7-8, Pages 741–746, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem-2012-0080, July 2012

Publication History

Published Online:


Objective: To investigate the GCM2 gene in three siblings with congenital hypoparathyroidism and perform functional analysis.

Materials and methods: We sequenced the GCM2 gene by PCR and analyzed the functional consequence of the mutation by transient transfection studies. Haplotype analysis was performed.

Results: We identified a nucleotide change, c.408C>A, in exon 3 that is predicted to truncate the Gcm2 protein (p.Tyr136Ter). All three affected siblings were homozygous and both parents were heterozygous for the mutation. Transfection studies revealed the mutant mRNA but not expression of the Gcm2 protein. Haplotype analysis revealed that the two mutant GCM2 alleles shared genotypes on chromosome 6p24.2.

Conclusions: We describe the first GCM2 mutation in exon 3 in patients with severe congenital hypoparathyroidism. Informative genetic markers could not exclude identity by descent for the mutant alleles. Gcm2 protein was not detected after transfection, suggesting that complete lack of Gcm2 action accounts for severe hypoparathyroidism.

Keywords: GCMB; GCM2; isolated hypoparathyroidism; mutation

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