What is it about?
We used next-generation sequencing to investigate two brothers with familial deafness whose parents were first cousins. Both brothers carried a previously unreported harmful variant in MYO7A; the younger brother also had novel variants in TH and EVC2. Other findings suggested that CDH23 and GJB2 may also contribute within the family.
Featured Image
Photo by National Cancer Institute on Unsplash
Why is it important?
Inherited hearing loss can involve many genes, particularly in families with consanguineous marriages. Identifying candidate variants expands knowledge of the genetic spectrum, can guide family counselling and supports further studies to confirm which changes cause disease.
Perspectives
From my perspective, this work matters because Inherited hearing loss can involve many genes, particularly in families with consanguineous marriages. I hope the findings support further research and informed, evidence-based decisions.
Yasar Yousafzai
Khyber Medical University
Read the Original
This page is a summary of: Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness, Pakistan Journal of Medical Sciences, January 2019, Pakistan Journal of Medical Sciences,
DOI: 10.12669/pjms.35.1.98.
You can read the full text:
Contributors
The following have contributed to this page
