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:

Clinic Method Genomic sequencing of the entire coding region
Turnaround 21 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 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.

Ding C et al. (2001) Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.

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2.

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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3.

Guan B et. al. (2016) GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

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Update: Sept. 26, 2018