Expanding the mutational spectrum of congenital microcephaly in Pakistani families
Sundas Farooq, Maria Asif, Ansar A. Abbasi, Zahid Latif, Bonsu Ku, Ehtisham Ul Haq Makhdoom, Madiha Shadab, Muzammil Ahmad Khan, Muhammad Muzammal, Raja Waqar, Rameez Nisar, Falak Sher Khan, Sanwal Aslam, Michal R. Schweiger, Muhammad Sajid Hussain · 2026
Read Expanding the mutational spectrum of congenital microcephaly in Pakistani families by Sundas Farooq, Maria Asif, Ansar A. Abbasi, Zahid Latif, Bonsu Ku, Ehtisham Ul Haq Makhdoom, Madiha Shadab, Muzammil Ahmad Khan, Muhammad Muzammal, Raja Waqar, Rameez Nisar, Falak Sher Khan, Sanwal Aslam, Michal R. Schweiger, Muhammad Sajid Hussain (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-12812388.txt.
Description
Sundas Farooq and co-authors widen the known gene fault list for congenital microcephaly in a text dated 2025, studying four Pakistani families. In this recessive disorder a baby is born with a far smaller head and a largely normal brain layout, often with mild to moderate learning disability. It runs higher where parents are close kin, as in parts of Pakistan.
The team found three new variants across the families, in genes tied to cell division scaffolds, plus one known harmful variant in the gene that causes most cases worldwide. Computer checks and structure models judged all of them damaging to the proteins involved. One new variant sits in a conserved patch that links several microcephaly proteins together. The finds help diagnostic labs read Pakistani cases and add fresh entries to a spectrum already spanning dozens of genes.
Catalog record
| CREATOR | Sundas Farooq, Maria Asif, Ansar A. Abbasi, Zahid Latif, Bonsu Ku, Ehtisham Ul Haq Makhdoom, Madiha Shadab, Muzammil Ahmad Khan, Muhammad Muzammal, Raja Waqar, Rameez Nisar, Falak Sher Khan, Sanwal Aslam, Michal R. Schweiger, Muhammad Sajid Hussain |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 24 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |