Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families

Hearing loss is a genetically heterogeneous disorder affecting approximately 360 million people worldwide and is among the most common sensorineural disorders. Here, we report a genetic analysis of seven large consanguineous families segregating prelingual sensorineural hearing loss. Whole-exome seq...

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Veröffentlicht in:	Genes 2019-12, Vol.10 (12), p.1031
Hauptverfasser:	Noman, Muhammad, Ishaq, Rafaqat, Bukhari, Shazia A, Ahmed, Zubair M, Riazuddin, Saima
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Binding sites Child Communication Deafness Deafness - genetics Electrocardiography Family Female Gene loci Genetic analysis Genetic Predisposition to Disease Genetic Testing Genetic Variation - genetics Genomics Hearing loss Hearing Loss - genetics Hearing Loss, Sensorineural - genetics Homozygote Humans Hydrogen bonds Male Membrane Proteins - genetics Middle Aged Mutation Neoplasm Proteins - genetics Pakistan - epidemiology Pedigree Phenotypes Protein folding Receptors, Estrogen - genetics Serine Endopeptidases - genetics Whole Exome Sequencing - methods
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