… The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.
J Clin Endocrinol Metab. 1998;83… The PROP1 2-base pair deletion is a common cause of …

… cascade lead to isolated or combined pituitary hormone deficiency (CPHD). … to cause CPHD
and to determine their structure. We analyzed 70 CPHD patients from 64 families. Deletions …

… Pathogenic gene variants (mutations) of PROP1 are thought to be the most common cause
… fifth chromosome pair (5q35) [4]. The most common mutation is a deletion of two base pairs …

… a homozygous mutation in the PROP1 gene with a 2-bp deletion (c.… combined pituitary
hormone deficiency due to PROP1 mutations. As we observed in this family, mutations in PROP1 …

… ]) in the PROP1 gene are the most common genetic causes of recessively inherited combined
pituitary hormones deficiency (… CPHD reported so far 3 , two prevail – the deletion of two …

… identified as an underlying cause of CPHD pathogenicity. Among these genes, paired-like
homeobox 1 (PROP1) has been reported to be the most common cause of CPHD. Materials …

… for PROP1 deficiency, reported homozygous deletions of the entire gene or particular exons
(7,30,33). For this reason, MLPA … The PROP1 2-Base Pair Deletion Is a Common Cause of …

… common causes of multiple anterior pituitary hormone deficiency (MPHD) is genetic defects
in the PROP1 … findings, the most common mutation in the PROP1 gene is a deletion of AG …

… homozygous gross ProP1 deletions (… common D5S2008 marker) among ProP1-deletion
carriers [14]. Additionally, two previous studies published in 1998 [38,39] analyzed the ProP1 c.…

… Patients with PROP1 or POU1F1 mutations thus present anterior pituitary … the impossibility
to identify large deletions or insertions or intronic alterations leading to splicing anomalies. …