The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency

Area of Science:

• Genetics
• Endocrinology
• Molecular Biology

Background:

• Prophet of Pituitary Transcription Factor 1 (PROP1) gene mutations are a significant cause of multiple pituitary hormone deficiency (MPHD).
• Understanding the genetic landscape of MPHD is crucial for diagnosis and genetic counseling.

Purpose of the Study:

• To determine the prevalence of the c.301_302delAG mutation in the PROP1 gene among Romanian patients diagnosed with MPHD.
• To investigate the mutation's frequency in familial versus sporadic forms of MPHD.

Main Methods:

• Conducted comprehensive assessments including somatic evaluation, hormonal testing, bone age determination, pituitary MRI, and molecular genetic analysis.
• Studied a cohort of 26 Romanian patients with MPHD, divided into familial (7 patients) and sporadic (19 patients) groups.

Main Results:

• The c.301_302delAG PROP1 mutation was identified in the homozygous state in 10 out of 26 patients (38.5%).
• This mutation was found in all 7 patients with a familial history of MPHD and in 3 patients with sporadic MPHD.
• Affected individuals exhibited diverse patterns of pituitary hormone deficiencies and pituitary gland morphology.

Conclusions:

• The homozygous c.301_302delAG genotype of the PROP1 gene is a frequent cause of MPHD in the Romanian population, with a 38.5% prevalence.
• The mutation's frequency was notably high in familial cases (100%) and significant in sporadic cases (16%).
• This finding highlights the importance of screening for this specific PROP1 mutation in Romanian MPHD patients.