Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Inactivating mutations of the GCM2 gene, a transcription factor, result in autosomal recessive hypoparathyroidism while activating mutations result in autosomal dominant familial isolated hyperparathyroidism.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 21 days | |
| Specimen type | genomic DNA |
| 1. |
Guan B et al. (2016) GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. 
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| 2. |
Ding C et al. (2001) Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.
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| 3. |
Baumber L et al. (2005) Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
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| 4. |
Orphanet article Orphanet ID 159623
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| 5. |
NCBI article NCBI 9247
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| 6. |
OMIM.ORG article Omim 603716
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| 7. |
Wikipedia article Wikipedia EN (GCM2)
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