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...

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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
ISSN1018-4813
1476-5438
1476-5438
DOI10.1038/ejhg.2016.64

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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.
AbstractList 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.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.
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.
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.
Author Shen, Jun
Lee, Dong-Young
Currall, Benjamin B
Yao, Ruen
Schilit, Samantha LP
Gusella, James F
Talkowski, Michael E
Hanscom, Carrie
Kammin, Tammy
Nolan, Lisa S
Mononen, Tarja
Pillalamarri, Vamsee
Zepeda-Mendoza, Cinthya J
Collins, Ryan L
Morton, Cynthia C
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Snippet Analysis of chromosomal rearrangements has been highly successful in identifying genes involved in many congenital abnormalities including hearing loss....
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StartPage 1622
SubjectTerms 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
Title Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay
URI https://www.ncbi.nlm.nih.gov/pubmed/27381092
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https://www.proquest.com/docview/1826711215
https://www.proquest.com/docview/1837307607
https://pubmed.ncbi.nlm.nih.gov/PMC5110062
Volume 24
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