Combined Pituitary Hormone Deficiency Caused by Compound Heterozygosity for Two Novel Mutations in the POU Domain of the PIT1/POU1F1 Gene

2001 ◽  
Vol 86 (4) ◽  
pp. 1545-1550 ◽  
Author(s):  
B. I. Hendriks-Stegeman
Keyword(s):  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Compound Heterozygosity ◽  
Novel Mutations ◽  
Pou1f1 Gene ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Pou Domain

scholarly journals Combined Pituitary Hormone Deficiency Caused by Compound Heterozygosity for Two Novel Mutations in the POU Domain of the PIT1/POU1F1 Gene1

2001 ◽  
Vol 86 (4) ◽  
pp. 1545-1550 ◽  
Author(s):  
Brenda I. Hendriks-Stegeman ◽  
Kevin D. Augustijn ◽  
Bert Bakker ◽  
Pieternella Holthuizen ◽  
Peter C. van der Vliet ◽  
...  
Keyword(s):  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Compound Heterozygosity ◽  
Novel Mutations ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Pou Domain

A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency

2009 ◽  
Vol 32 (8) ◽  
pp. 653-658 ◽  
Author(s):  
Y. Carlomagno ◽  
M. Salerno ◽  
D. Vivenza ◽  
D. Capalbo ◽  
M. Godi ◽  
...  
Keyword(s):  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Splicing Mutation ◽  
Pou1f1 Gene ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency

scholarly journals Novel Mutations within the POU1F1 Gene Associated with Variable Combined Pituitary Hormone Deficiency

2005 ◽  
Vol 90 (8) ◽  
pp. 4762-4770 ◽  
Author(s):  
James P. G. Turton ◽  
Rachel Reynaud ◽  
Ameeta Mehta ◽  
John Torpiano ◽  
Alexandru Saveanu ◽  
...  
Keyword(s):  
Dna Binding ◽  
Mutational Analysis ◽  
Hot Spot ◽  
Dominant Negative ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Novel Mutations ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Functional Studies

Context: Mutations within the gene encoding the pituitary-specific transcription factor POU1F1 are associated with combined pituitary hormone deficiency (CPHD). Most of the affected individuals manifest GH, prolactin, and TSH deficiency. Objective: We have now screened 129 individuals with CPHD and isolated GH deficiency for mutations within POU1F1. Results: Causative mutations were identified in 10 of 129 individuals (7.8%). Of these, five patients harbored the dominant negative R271W mutation, which is a well-recognized mutational hot spot. We have also identified a second frequently occurring mutation, E230K, which appears to be common in Maltese patients. Additionally, we describe two novel mutations within POU1F1, an insertion of a single base pair (ins778A) and a missense mutation (R172Q). Functional studies have revealed that POU1F1 (E230K) is associated with a reduction in transactivation, although DNA-binding affinity is similar to the wild-type protein. On the other hand, POU1F1 (R172Q) is associated with a reduction in DNA binding and transactivation, whereas POU1F1 (ins778A) is associated with loss of DNA binding and a reduction in transactivation. Conclusions: Our data suggest that the phenotype associated with POU1F1 mutations may be more variable, with the occasional preservation of TSH secretion. Additionally, our data revealed POU1F1 mutations in three patients who were diagnosed as having ACTH deficiency but who, on further evaluation, were found to have normal cortisol secretion. Hence, elucidation of the genotype led to further evaluation of the phenotype, with the cessation of cortisol replacement that had been commenced unnecessarily. These data reflect the importance of mutational analysis in patients with CPHD.

Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms

HORMONES ◽  
2018 ◽  
Vol 17 (4) ◽  
pp. 581-588
Author(s):  
Firdevs Baş ◽  
Zehra Yavaş Abalı ◽  
Güven Toksoy ◽  
Şükran Poyrazoğlu ◽  
Rüveyde Bundak ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Early Puberty ◽  
Pou1f1 Gene ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency

Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency

2015 ◽  
Vol 84 (3) ◽  
pp. 153-158 ◽  
Author(s):  
Magdalena Avbelj Stefanija ◽  
Primož Kotnik ◽  
Nina Bratanič ◽  
Mojca Žerjav Tanšek ◽  
Sara Bertok ◽  
...  
Keyword(s):  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Novel Mutations ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency
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