Format

Send to

Choose Destination
Genet Test Mol Biomarkers. 2014 Feb;18(2):123-6. doi: 10.1089/gtmb.2013.0328. Epub 2013 Dec 24.

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

Author information

1
1 Raphael Recanati Genetics Institute , Rabin Medical Center, Petah Tikva, Israel .

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.

PMID:
24367894
PMCID:
PMC3926139
DOI:
10.1089/gtmb.2013.0328
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Atypon Icon for PubMed Central
Loading ...
Support Center