Back to Search
Start Over
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.
- Source :
-
European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Nov; Vol. 24 (11), pp. 1622-1626. Date of Electronic Publication: 2016 Jul 06. - Publication Year :
- 2016
-
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.
- Subjects :
- Adult
Cell Line, Tumor
Chromosome Breakpoints
Chromosomes, Human, Pair 1 genetics
Chromosomes, Human, Pair 5 genetics
Developmental Disabilities diagnosis
Female
Hearing Loss diagnosis
Humans
Infant, Newborn
Male
Middle Aged
Pedigree
Syndrome
Translocation, Genetic
Developmental Disabilities genetics
Hearing Loss genetics
Phenotype
Receptors, Estrogen genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1476-5438
- Volume :
- 24
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- European journal of human genetics : EJHG
- Publication Type :
- Academic Journal
- Accession number :
- 27381092
- Full Text :
- https://doi.org/10.1038/ejhg.2016.64