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Yukiko Hashimoto, Mariangela Cisternino, Laurie E. Cohen, A Novel Nonsense Mutation in the Pit-1 Gene: Evidence for a Gene Dosage Effect, The Journal of Clinical Endocrinology & Metabolism, Volume 88, Issue 3, 1 March 2003, Pages 1241–1247, https://doi.org/10.1210/jc.2002-021510
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The POU transcription factor Pit-1 functions in the development of somatotrophs, lactotrophs, and thyrotrophs of the anterior pituitary gland. It also plays a role in cell-specific gene expression and regulation of the gene products from these cell types, GH, prolactin, and TSH, respectively. In the present report we studied a patient with severe growth failure. Provocative studies revealed undetectable GH, prolactin, and TSH levels, and her pituitary gland was hypoplastic on magnetic resonance imaging. She had a novel homozygous nonsense mutation in the 3′ end of the first α-helix of the POU-specific domain of the Pit-1 gene. This mutation results in a truncated protein with loss of most of the Pit-1 DNA-binding domains. Interestingly, her parents, who each have one mutant allele, have evidence of mild endocrine dysfunction. Thus, two normal copies of the Pit-1 gene appear necessary for full Pit-1 gene function.
