Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transcription factor GCMB

Inactivating mutations of the GCM2 gene, a transcription factor, result in autosomal recessive hypoparathyroidism while activating mutations result in autosomal dominant familial isolated hyperparathyroidism.

Genetests:

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

Related Diseases:

Hypoparathyroidism
AP2S1
CASR
GCM2
GNA11
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
GATA3
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE
Kenny-Caffey syndrome
TBCE
PTH
Familial Isolated Hyperparathyroidism
GCM2

References:

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 [^]
5.

NCBI article

NCBI 9247 [^]
6.

OMIM.ORG article

Omim 603716 [^]
7.

Wikipedia article

Wikipedia EN (GCM2) [^]
Update: April 29, 2019