Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families
Hamza Khan, Sadia Bukhari, Nauman Ahmad, Israr Ahmed Bhutto, Yousaf Jamal Mahsood, Mohsin Iqbal Haroon, Muhammad Moeez Uddin, Amal Shabir Memon, Atta Ur Rehman, Shah Zainab, Asad Munir, Syeda Hafiza Benish Ali, Muhammad Ajmal, Raheel Qamar, Jibril Hirbo, Maleeha Azam, Humaira Ayub · 2026
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Description
Hamza Khan and co-authors hunt the genetic roots of primary congenital glaucoma, an eye disease present from birth, in Pakistani families. The condition is more common where marriages between relatives are frequent, as in Pakistan, where about sixty-three percent of marriages are between kin. The team recruited nine large related families and three smaller ones and read their genes.
Most families carried changes in a known gene, CYP1B1. Nine of the variants were already known, but one, a swap that changes a serine to a proline, had never been recorded in any database, and every prediction tool judged it harmful. One family carried no CYP1B1 change; in them, the trail pointed to a fresh two-megabase region on chromosome 7. The authors say the work widens the known mutation list and shows how varied the disease's roots are in Pakistan.
Catalog record
| CREATOR | Hamza Khan, Sadia Bukhari, Nauman Ahmad, Israr Ahmed Bhutto, Yousaf Jamal Mahsood, Mohsin Iqbal Haroon, Muhammad Moeez Uddin, Amal Shabir Memon, Atta Ur Rehman, Shah Zainab, Asad Munir, Syeda Hafiza Benish Ali, Muhammad Ajmal, Raheel Qamar, Jibril Hirbo, Maleeha Azam, Humaira Ayub |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 42 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |