Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay

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. Us...

Full description

Saved in:
Bibliographic Details
Published inEuropean journal of human genetics : EJHG Vol. 24; no. 11; pp. 1622 - 1626
Main Authors Schilit, Samantha Lp, Currall, Benjamin B, Yao, Ruen, Hanscom, Carrie, Collins, Ryan L, Pillalamarri, Vamsee, Lee, Dong-Young, Kammin, Tammy, Zepeda-Mendoza, Cinthya J, Mononen, Tarja, Nolan, Lisa S, Gusella, James F, Talkowski, Michael E, Shen, Jun, Morton, Cynthia C
Format Journal Article
LanguageEnglish
Published England Nature Publishing Group 01.11.2016
Subjects
Adult
Age
Breakpoints
Cell Line, Tumor
Chromosome 1
Chromosome 5
Chromosome Breakpoints
Chromosome rearrangements
Chromosomes
Chromosomes, Human, Pair 1 - genetics
Chromosomes, Human, Pair 5 - genetics
Congenital diseases
Developmental Disabilities - diagnosis
Developmental Disabilities - genetics
Ears & hearing
Female
Gene expression
Genetic research
Genomes
Hair cells
Hearing
Hearing aids
Hearing loss
Hearing Loss - diagnosis
Hearing Loss - genetics
Hearing protection
Hospitals
Humans
Infant, Newborn
Inner ear
Male
Medical screening
Middle Aged
Pathology
Pedigree
Phenotype
Phenotypes
Receptors, Estrogen - genetics
Short Report
Syndrome
Translocation, Genetic
United Kingdom > UK
United States > US
Massachusetts
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
These authors contributed equally to this work.
ISSN:1018-4813
1476-5438
DOI:10.1038/ejhg.2016.64