Introduction of molecular genetic diagnosis in syndromes with a hearing defect

Abstract

The authors introduced molecular genetic diagnosis of Waardenbrug, Treacher Collins and Alport syndrome in their department. In one of six examined families with Waardenburg syndrome (16.7%) they proved a mutation of the PAX3 gene, in two of twelve examined families with Treacher Collin syndrome (16.7%) they detected a mutation of the TCOF1 gene and in seven of thirteen examined families with Alport syndrome (53.8%) they found a mutation of the COL4A5 gene.

As all above mentioned syndromes are genetically heterogeneous the authors consider the detection of mutations in the examined families as high.

Keywords

• Alport syndrome
• Hearing defect
• Molecular genetic examination
• Norrie syndromeTreacher Collin syndrome
• Waardenburg syndrome