Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Growth hormone 1

Mutations in the growth hormone gene might be responsible for hereditary growth retardation.

Phenotype

Mutations that affect secretion or function of the hormone result in dwarfism due to GH deficiency. Furthermore polymorphisms in this gene have been associated with risk to hypertension and stroke.

Interpretation

Usually mutations in the GH1 gene are recessive. An exception is the deletion of the whole exon 3. This mutation is antimorphic, negative dominant, because it contains a cystein residue which is important for homodimer formation. If this cystein is missing in the partners protein, a disulfid bound is formed with an other cystein wich inactivates even the healthy protein.

Genetests:

Clinic 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 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Isolated growth hormone deficiency type 1A
GH1
Isolated growth hormone deficiency type 1B
GH1
GHRH
GHRHR
Kowarski syndrome
GH1
Isolated growth hormone deficiency type 2
GH1

References:

1.

None (2005) Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?

external link
2.

Horan M et al. (2006) Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke.

external link
3.

None (2006) Growth hormone: historical notes.

external link
4.

Walenkamp MJ et al. (2006) Genetic disorders in the growth hormone - insulin-like growth factor-I axis.

external link
5.

NCBI article

NCBI 2688 external link
6.

OMIM.ORG article

Omim 139250 external link
7.

Orphanet article

Orphanet ID 122092 external link
8.

Wikipedia article

Wikipedia EN (Growth_hormone_1) external link
Update: Aug. 14, 2020
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