New Mutation Found in Gene Linked to Eye Disease in Pakistani Family
Author Information
Author(s): Ahmad Adeel, Daud Shakeela, Kakar Naseebullah, Nürnberg Gudrun, Nürnberg Peter, Babar Masroor Ellahi, Thoenes Michaela, Kubisch Christian, Ahmad Jamil, Bolz Hanno Jörn
Primary Institution: Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan
Hypothesis
To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family.
Conclusion
A novel LCA5 mutation causing LCA was identified in a Pakistani family, with developmental cataracts present in some patients.
Supporting Evidence
- All affected individuals displayed severe visual impairment since birth.
- A novel truncating mutation in exon 4 of LCA5 was identified in homozygous state in all affected persons.
- Developmental cataracts were present in two of the four patients.
- Genomewide linkage analysis mapped the disease region to chromosome 6p14.1.
Takeaway
Scientists found a new mutation in a gene that causes a serious eye disease in a family from Pakistan, and some family members also had cataracts.
Methodology
The study involved medical history, funduscopy, standard ERG, and genome-wide linkage analysis.
Limitations
The study was limited to a small sample size from a single family.
Participant Demographics
Affected individuals were from a consanguineous family in Pakistan, aged between 7 and 15 years.
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