Article
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.
Genes - 11 Nov 2020
Doll Julia, Vona Barbara, Schnapp Linda, Rüschendorf Franz, Khan Imran, Khan Saadullah, Muhammad Noor, Alam Khan Sher, Nawaz Hamed, Khan Ajmal, Ahmad Naseer, Kolb Susanne M, Kühlewein Laura, Labonne Jonathan D J, Layman Lawrence C, Hofrichter Michaela A H, Röder Tabea, Dittrich Marcus, Müller Tobias, Graves Tyler D, Kong Il-Keun, Nanda Indrajit, Kim Hyung-Goo, Haaf Thomas
Abstract excerpt
The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably according to the population background. Pakistan and other countries with high rates of consanguineous marriages have served as a unique resource for studying rare and novel forms of recessive HL. A combined exome sequencing, bioinformatics analysis, and gene mapping approach for 21 consanguineous Pakistani families...
Topics
- Adolescent
- Adult
- Aged
- Child
- Consanguinity
- Deafness
- Ethnicity
- Family
- Female
- Genes, Recessive