The many faces of sensorineural hearing loss: One founder and two novel mutations affecting one family of mixed Jewish Ancestry

Doron M. Behar, Bella Davidov, Zippora Brownstein, Tamar Ben-Yosef, Karen B. Avraham, Mordechai Shohat

Research output: Contribution to journalArticlepeer-review

Abstract

Dramatic progress has been made in our understanding of the highly heterogeneous molecular bases of sensorineural hearing loss (SNHL), demonstrating the involvement of all known forms of inheritance and a plethora of genes tangled in various molecular pathways. This progress permits the provision of prognostic information and genetic counseling for affected families, which might, nevertheless, be exceedingly challenging. Here, we describe an intricate genetic investigation that included Sanger-type sequencing, BeadArray technology, and next-generation sequencing to resolve a complex case involving one family presenting syndromic and nonsyndromic SNHL phenotypes in two consecutive generations. We demonstrate and conclude that such an effort can be completed during pregnancy.

Original languageEnglish
Pages (from-to)123-126
Number of pages4
JournalGenetic Testing and Molecular Biomarkers
Volume18
Issue number2
DOIs
StatePublished - 1 Feb 2014

Fingerprint

Dive into the research topics of 'The many faces of sensorineural hearing loss: One founder and two novel mutations affecting one family of mixed Jewish Ancestry'. Together they form a unique fingerprint.

Cite this