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:

References: