A Novel MPIG6B Gene Variant Identified in a Patient with Congenital Thrombocytopenia from Türkiye
Burcu Kılınç Oktay, Burak Durmaz, Simge Çınar Özel, Süheyla Ocak, Tülin Tiraje Celkan · 2026
Read A Novel MPIG6B Gene Variant Identified in a Patient with Congenital Thrombocytopenia from Türkiye by Burcu Kılınç Oktay, Burak Durmaz, Simge Çınar Özel, Süheyla Ocak, Tülin Tiraje Celkan (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/PMC13540406.txt.
Description
Kılınç Oktay and colleagues published a 2026 letter on a new gene fault behind low platelets from birth. A gene called MPIG6B helps build platelets, the blood bits that stop bleeding. Faults in it cause low platelets plus slow spleen and marrow changes. Their patient, a nine-year-old boy in Türkiye, carried a variant never reported before.
His platelet counts stayed low from his third day of life onward. At age four, anemia and a swollen spleen joined the picture. His sister and cousin also carried low platelet counts in the family. The same fault played out unevenly across the children in the family. The case widens the known range of this rare disorder. His parents were first cousins, a pattern tied to recessive inheritance.
Catalog record
| CREATOR | Burcu Kılınç Oktay, Burak Durmaz, Simge Çınar Özel, Süheyla Ocak, Tülin Tiraje Celkan |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 4 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |