Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss
Sebastian Vishnopolska, James Liu, Maria Andrea Camilletti, Julian Martinez Mayer, Lucia Iglesias Garcia, Michelle Brinkmeier, Elisa Vaiani, Sofia Hebe Vidal, Marta Ciaccio, María Isabel Di Palma, Alicia Belgorosky, Marcelo Marti, Robert B. Hufnagel, Sally A. Camper, Maria Ines Perez-Millan · 2026
Read Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss by Sebastian Vishnopolska, James Liu, Maria Andrea Camilletti, Julian Martinez Mayer, Lucia Iglesias Garcia, Michelle Brinkmeier, Elisa Vaiani, Sofia Hebe Vidal, Marta Ciaccio, María Isabel Di Palma, Alicia Belgorosky, Marcelo Marti, Robert B. Hufnagel, Sally A. Camper, Maria Ines Perez-Millan (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/PMC13282554.txt.
Description
Sebastian Vishnopolska and co-authors present a 2026 study of a gene defect causing pituitary hormone failure and vision loss in a child. The gene, PNPLA6, maintains nerve cell health, and faults in it cause a spectrum of disorders. The patient was a ten-year-old girl missing several pituitary hormones, including growth and thyroid signals, with vision loss and developmental delay. She carried two different faulty copies of the gene, one inherited from each parent.
Lab tests showed both variants wiped out the enzyme's activity, proving they cause disease. One changed a conserved building block in the enzyme's working region. The other created a faulty splice site, a place where gene messages are cut and joined. Mouse work showed the gene active in early pituitary stem cells and later in hormone-producing cells. The authors suggest it guides early pituitary development and later function.
Catalog record
| CREATOR | Sebastian Vishnopolska, James Liu, Maria Andrea Camilletti, Julian Martinez Mayer, Lucia Iglesias Garcia, Michelle Brinkmeier, Elisa Vaiani, Sofia Hebe Vidal, Marta Ciaccio, María Isabel Di Palma, Alicia Belgorosky, Marcelo Marti, Robert B. Hufnagel, Sally A. Camper, Maria Ines Perez-Millan |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 30453 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |