title: The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry.
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.
authors.affiliation: 1 Raphael Recanati Genetics Institute , Rabin Medical Center, Petah Tikva, Israel .
authors.forename: Doron M
authors.initials: DM
authors.lastname: Behar
authors.forename: Bella
authors.initials: B
authors.lastname: Davidov
authors.forename: Zippora
authors.initials: Z
authors.lastname: Brownstein
authors.forename: Tamar
authors.initials: T
authors.lastname: Ben-Yosef
authors.forename: Karen B
authors.initials: KB
authors.lastname: Avraham
authors.forename: Mordechai
authors.initials: M
authors.lastname: Shohat
mesh_terms: D000328:Adult; D005190:Family; D005260:Female; D018703:Founder Effect; D005817:Genetic Counseling; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007585:Jews / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D052245:Usher Syndromes / Q000235:genetics