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GENATLAS PHENOTYPE

last update : 06-10-2021

Symbol	CPHD1
Location	3p11.2
Name	pituitary dwarfism, with combined deficiency of TSH, GH and PRL
Corresponding gene	POU1F1
Other symbol(s)	PIT1
Main clinical features	linked to age-dependent anterior pituitary hypoplasia associated to infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland on MRI examination
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	endocrinology
Type	disease

Gene product

Name	pituitary specific transcription factor (POU1F1)

Remark(s)

variants that shift splicing to favor the repressive beta isoform of POU1F1 are associated to CPHD1 (PMID: 34270938)) P76L mutation, which segregates perfectly with the severe growth retardation, involves a conformation modification of the POU1F1 protein that affects cofactors and DNA interactions that impact specifically the hGH1 transcriptional level of expression (PMID: 26612202))