Characterization of gene duplication associated with nonsyndromic hearing loss

• Grant number: 17/22944-1
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: January 01, 2018
• End date: December 31, 2018
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Karina Lezirovitz Mandelbaum
• Grantee: Cindy Yukimi Sonoda
• Host Institution: Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

Deafness, hearing loss or hearing impairment, is one of the most heterogeneous disorders known, both regarding clinical presentation and etiology. In 70% of cases, hearing loss is nonsyndromic. It can show all Mendelian inheritance patterns as well as mitochondrial inheritance. Only three cases of genomic duplication are described in the literature where deafness is nonsyndromic. We identified a duplication of three genes, which segregate with postlingual progressive hearing loss with autosomal dominant inheritance pattern in a large Brazilian family. Duplications involving more than one gene may interfere with gene expression by causing functional extra copies, by interrupting their coding regions, by changing their positions or by separating them from their promoters or other regulatory elements. The purpose of this project is to characterize the ends of this duplication in order to determine how and where it was inserted and thus infer which genes could be with their expression changed. (AU)