TY - JOUR
T1 - The many faces of sensorineural hearing loss
T2 - One founder and two novel mutations affecting one family of mixed Jewish Ancestry
AU - Behar, Doron M.
AU - Davidov, Bella
AU - Brownstein, Zippora
AU - Ben-Yosef, Tamar
AU - Avraham, Karen B.
AU - Shohat, Mordechai
PY - 2014/2/1
Y1 - 2014/2/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84893746210&partnerID=8YFLogxK
U2 - https://doi.org/10.1089/gtmb.2013.0328
DO - https://doi.org/10.1089/gtmb.2013.0328
M3 - مقالة
SN - 1945-0265
VL - 18
SP - 123
EP - 126
JO - Genetic Testing and Molecular Biomarkers
JF - Genetic Testing and Molecular Biomarkers
IS - 2
ER -