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References OMIM Gene GeneReviews HGMD HGNC
last update : 26-01-2010
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 mutationChromosome rearrangementEffectComments
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