Clinical and Genetic Spectrum of Large AIP Deletions
Tea Shehu Kolnikaj, Maren Ruka, Artur Xhumari, Anila Babameto-Laku, Athanasios Siolos, Panagiotis Alexandros Drakos, Kesson Magid, Thomas O Millner, Robert D Murray, Marinella Tzanela, Dragana Miljić, Arlinda Ramaj, Paul Benjamin Loughrey, Stelios Tigas, Márta Korbonits, Neetu Rawal · 2026
Read Clinical and Genetic Spectrum of Large AIP Deletions by Tea Shehu Kolnikaj, Maren Ruka, Artur Xhumari, Anila Babameto-Laku, Athanasios Siolos, Panagiotis Alexandros Drakos, Kesson Magid, Thomas O Millner, Robert D Murray, Marinella Tzanela, Dragana Miljić, Arlinda Ramaj, Paul Benjamin Loughrey, Stelios Tigas, Márta Korbonits, Neetu Rawal (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13570415.txt.
Description
Tea Shehu Kolnikaj and co-authors gather, in a 2026 paper, all known cases of large deletions in a gene tied to growth tumors of the pituitary gland. Faults in the gene, AIP, are the most frequent known genetic cause of a familial form of these tumors. Most known faults are small point mutations. Large deletions are rare, easy to miss with standard sequencing, and may be underdiagnosed.
The team pooled data on 25 reported patients and added five new families. The new cases hold two new deletions and a large Albanian family with a rare thyroid cancer. Set beside other AIP faults, the deletion cases matched on age at presentation, tumor size, and hormone features. The authors judge that the gene is unlikely to drive thyroid cancer. They stress that genetic tests must add deletion checks, since such losses may occur in close to a tenth of AIP-fault families.
Catalog record
| CREATOR | Tea Shehu Kolnikaj, Maren Ruka, Artur Xhumari, Anila Babameto-Laku, Athanasios Siolos, Panagiotis Alexandros Drakos, Kesson Magid, Thomas O Millner, Robert D Murray, Marinella Tzanela, Dragana Miljić, Arlinda Ramaj, Paul Benjamin Loughrey, Stelios Tigas, Márta Korbonits, Neetu Rawal |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 48 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |