Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan
Memoona Ramzan, Hafiza Idrees, Hina Khan, Rabia Faridi, Zunaira Munir, Fariha Muzaffar, Kanwal Shabbir, Ayesha Imtiaz, Muhammad Noman, Alina Ahmed, Rasheeda Bashir, Niaz Muhammad Khan, Azra Maqsood, Ghulam Mujtaba, Midhat Salman, Ihtisham Bukhari, Hafiz Muhammad Waqas Munir, Huma Tariq, Muhammad Waq · 2026
Read Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan by Memoona Ramzan, Hafiza Idrees, Hina Khan, Rabia Faridi, Zunaira Munir, Fariha Muzaffar, Kanwal Shabbir, Ayesha Imtiaz, Muhammad Noman, Alina Ahmed, Rasheeda Bashir, Niaz Muhammad Khan, Azra Maqsood, Ghulam Mujtaba, Midhat Salman, Ihtisham Bukhari, Hafiz Muhammad Waqas Munir, Huma Tariq, Muhammad Waq (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-13333964.txt.
Description
Ramzan leads a large team finding hearing loss genes in Pakistani families, in work from twenty twenty-six. Recessive hearing loss of moderate to severe degree links to at least twenty-seven known genes. Families where parents are related, common in Pakistan, are powerful for finding such variants.
Fifty-four consanguineous families were ascertained for genetic study. Both known and novel variants were identified, the title reports. Each solved family gains a precise diagnosis, recurrence risk figures, and carrier testing options. The work also expands the global catalog of hearing loss variants, which is still biased toward European ancestry samples.
Catalog record
| CREATOR | Memoona Ramzan, Hafiza Idrees, Hina Khan, Rabia Faridi, Zunaira Munir, Fariha Muzaffar, Kanwal Shabbir, Ayesha Imtiaz, Muhammad Noman, Alina Ahmed, Rasheeda Bashir, Niaz Muhammad Khan, Azra Maqsood, Ghulam Mujtaba, Midhat Salman, Ihtisham Bukhari, Hafiz Muhammad Waqas Munir, Huma Tariq, Muhammad Waq |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 78 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |