Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency

Studen, Katica Bajuk; Stefanija, Magdalena Avbelj; Saveanu, Alexandru; Barlier, Anne; Brue, Thierry; Pfeifer, Marija

doi:10.1007/s12020-019-01949-2

Cited by 2 publications

(2 citation statements)

References 30 publications

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“…However, the frequency was reported to vary widely between 0% and 70.1% from different populations ( 10 , 18 , 19 , 20 , 21 ). PROP1 mutation frequencies among CPHD patients are highest in Eastern European populations especially Lithuanian, Polish and Hungarian, and also high in Portuguese, Russian and Brazilian cohorts ( 3 , 10 , 12 , 22 , 23 , 24 , 25 , 26 , 27 , 28 ). In contrast, PROP1 mutation rates are usually low in Western and Southern European countries, Australia and in cases with Asian origin, especially in sporadic CPHD patients ( 3 , 6 , 18 , 19 , 20 , 21 , 29 ).…”

Section: Discussionmentioning

confidence: 98%

Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency

Bulut¹,

Dilek²,

Kotan³

et al. 2020

Jcrpe

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What is already known on this topic? It is already known that PROP1 gene product is a critical transcription factor for development and maintenance of proper functioning of anterior pituitary gland. So far, PROP1 gene mutations are reported to be the most frequent genetic aetiology of combined pituitary hormone deficiency and it is responsible from progressive anterior pituitary hormone deficiencies. What this study adds? We have defined frequency of PROP1 gene mutations in a Turkish cohort of combined pituitary hormone deficiency patients. Pathogenic mutations were detected in 11 patients, gross deletions were present. A novel variant was discovered in two siblings. We described patient characteristics and treatment responses.

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Section: Discussionmentioning

confidence: 98%

Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency

Bulut¹,

Dilek²,

Kotan³

et al. 2020

Jcrpe

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“…182230) [5], OTX2 (Axenfeld-Rieger syndrome: ectopic iris, polycoria, and sometimes glaucoma) [6], SOX2 (anophthalmia or severe microphthalmia) [7], PROKR2 (septo-optic dysplasia) [8], FGFR1 (septo-optic dysplasia) [9], and ARNT2 (blindness and neurological and renal diseases) [10] are now known to be implicated in hypopituitarism with eye anomalies. However, a molecular cause is only found in a minority of cases of congenital hypopituitarism, with previous studies identifying proportions of about 10% in Western Europe [3] and 30% in Eastern Europe [11]. This suggests that other factors involved in hypothalamopituitary development remain to be discovered.…”

Section: Introductionmentioning

confidence: 92%

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations

Castets¹,

Roucher‐Boulez²,

Saveanu³

et al. 2020

Horm Res Paediatr

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Background: FOXL2 is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this syndrome, and Foxl2 is known to be involved in pituitary development in mice. Our aim was to analyze the prevalence of FOXL2 gene alteration in a series of patients with congenital hypopituitarism and eyelid anomalies. Methods: FOXL2 was analyzed in 10 patients with hypopituitarism (ranging from isolated GHD to complete pituitary hormone deficiency) and eyelid anomalies (typical BPES in 4 patients and milder anomalies in 6 patients). In patients with an FOXL2 mutation, we ruled out other possible molecular explanations by analyzing a panel of 20 genes known to be associated with hypopituitarism, and a candidate gene approach was used for patients without an FOXL2 mutation. Results: Three patients had an FOXL2 mutation. All 3 had typical BPES. Their pituitary phenotype varied from GHD to complete pituitary hormone deficiency and their pituitary morphology ranged from normal to an interrupted pituitary stalk. No mutations were found in genes previously associated with hypopituitarism. Conclusion: Our study shows that some patients with BPES have hypopituitarism with no molecular explanation other than FOXL2 mutation. This points toward an involvement of FOXL2 in human pituitary development.

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Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency

Cited by 2 publications

References 30 publications

Mutations Within the Transcription Factor <i>PROP1</i> in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency

Mutations Within the Transcription Factor <i>PROP1</i> in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency

Hypopituitarism in Patients with Blepharophimosis and <b><i>FOXL2</i></b> Mutations

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