Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5904899 | European Journal of Medical Genetics | 2013 | 7 Pages |
Abstract
We describe the fourth case with a complete PROP1 deletion in homozygosis. The apparent location of the respective 5â² (within a highly repetitive region, rich in Alu sequences) and 3â² (within an Alu sequence) breakpoints, suggests that the deletion may have arisen through homologous recombination. The differentiation between PROP1 mutation associated pituitary enlargements from craniopharyngioma, pituitary adenoma, dys-germinoma, or Rathke's pouch cyst, is critical for the correct patient management. It is important to recognize that PROP1 mutations can present associated with evolving pituitary masses and/or other MRI alterations of the pituitary during early childhood and that surgery is not indicated in these patients. Therefore, in the presence of combined pituitary hormone deficiency and a pituitary or hypothalamic mass, PROP1 analysis should be considered before referring the patient to a neurosurgeon.
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Authors
Arzu Akcay, Korkut Ulucan, Necati Taskin, Mehmet Boyraz, Teoman Akcay, Olga Zurita, Ana Gomez, Karen E. Heath, Angel Campos-Barros,