Novel Mutations in <i>CLPP</i>, <i>LARS2</i>, <i>CDH23</i>, and <i>COL4A5</i> Identified in Familial Cases of Prelingual Hearing Loss

Novel Mutations in <i>CLPP</i>, <i>LARS2</i>, <i>CDH23</i>, and <i>COL4A5</i> Identified in Familial Cases of Prelingual Hearing Loss

We report the underlying genetic causes of prelingual hearing loss (HL) segregating in eight large consanguineous families, ascertained from the Punjab province of Pakistan. Exome sequencing followed by segregation analysis revealed seven potentially pathogenic variants, including four novel alleles...

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Bibliographic Details
Main Authors: Saba Zafar, Mohsin Shahzad, Rafaqat Ishaq, Ayesha Yousaf, Rehan S. Shaikh, Javed Akram, Zubair M. Ahmed, Saima Riazuddin
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Genes
Subjects:
prelingual hearing loss
genetic heterogeneity
whole-exome sequencing
genetic testing
Pakistan
Online Access:https://www.mdpi.com/2073-4425/11/9/978

Internet

https://www.mdpi.com/2073-4425/11/9/978

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