| Literature DB >> 27381092 |
Samantha Lp Schilit1, Benjamin B Currall2,3, Ruen Yao4, Carrie Hanscom5, Ryan L Collins5, Vamsee Pillalamarri5, Dong-Young Lee6, Tammy Kammin2, Cinthya J Zepeda-Mendoza2,3, Tarja Mononen7, Lisa S Nolan8, James F Gusella1,3,5,9,10, Michael E Talkowski3,5,9,10,11,12, Jun Shen3,6,13, Cynthia C Morton2,3,6,9,14.
Abstract
Analysis of chromosomal rearrangements has been highly successful in identifying genes involved in many congenital abnormalities including hearing loss. Herein, we report a subject, designated DGAP242, with congenital hearing loss (HL) and a de novo balanced translocation 46,XX,t(1;5)(q32;q15)dn. Using multiple next-generation sequencing techniques, we obtained high resolution of the breakpoints. This revealed disruption of the orphan receptor ESRRG on chromosome 1, which is differentially expressed in inner ear hair cells and has previously been implicated in HL, and disruption of KIAA0825 on chromosome 5. Given the translocation breakpoints and supporting literature, disruption of ESRRG is the most likely cause for DGAP242's phenotype and implicates ESRRG in a monogenic form of congenital HL, although a putative contributory role for KIAA0825 in the subject's disorder cannot be excluded.Entities:
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Year: 2016 PMID： 27381092 PMCID： PMC5110062 DOI： 10.1038/ejhg.2016.64
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246