| Symbol
| IGHD2
|
| Location
| 17q24
|
| Name
|
pituitary dwarfism 2 |
| Corresponding gene
|
GH1
|
| Main clinical features
|
isolated growth hormone deficiency, with clinical severity that varies considerably between kindreds and affected patients respond well to GH treatment without the development of antibodies |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| endocrinology |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| abnormal splicing
|
| abnormal protein/loss of function
|
| |
| Remark(s)
|
mutation creates a functional SFRS2-binding site that then acts synergistically with the downstream SFRS2 site to produce pathological levels of exon 3 skipping of GH1 |