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

Samantha Lp Schilit; Benjamin B Currall; Ruen Yao; Carrie Hanscom; Ryan L Collins; Vamsee Pillalamarri; Dong-Young Lee; Tammy Kammin; Cinthya J Zepeda-Mendoza; Tarja Mononen; Lisa S Nolan; James F Gusella; Michael E Talkowski; Jun Shen; Cynthia C Morton

doi:10.1038/ejhg.2016.64

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

Samantha Lp Schilit, Benjamin B Currall, Ruen Yao, Carrie Hanscom, Ryan L Collins, Vamsee Pillalamarri, Dong-Young Lee, Tammy Kammin, Cinthya J Zepeda-Mendoza, Tarja Mononen, Lisa S Nolan, James F Gusella, Michael E Talkowski, Jun Shen, Cynthia C Morton

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1622-1626
Number of pages	5
Journal	European journal of human genetics : EJHG
Volume	24
Issue number	11
Early online date	6 Jul 2016
DOIs	https://doi.org/10.1038/ejhg.2016.64
Publication status	Published - Nov 2016

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Journal Article

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10.1038/ejhg.2016.64

Manchester Centre for Audiology and Deafness (ManCAD)
Munro, K. (PI), Millman, R. (PI), Lamb, W. (Support team), Dawes, P. (PI), Plack, C. (PI), Stone, M. (PI), Kluk-De Kort, K. (PI), Moore, D. (PI), Morton, C. (PI), Prendergast, G. (PI), Couth, S. (PI), Schlittenlacher, J. (PI), Chilton, H. (PI), Visram, A. (Researcher), Dillon, H. (PI), Guest, H. (Researcher), Heinrich, A. (PI), Jackson, I. (Researcher), Littlejohn, J. (Researcher), Jones, L. (PI), Lough, M. (Researcher), Morgan, R. (Researcher), Perugia, E. (Researcher), Roughley, A. (Researcher), Whiston, H. (Researcher), Wright, C. (Support team), Saunders, G. (PI), Kelly, C. (PI), Cross, H. (Researcher), Loughran, M. (Researcher), Hoseinabadi, R. (PI) & Vercammen, C. (PI)
Project: Research

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Schilit, S. L., Currall, B. B., Yao, R., Hanscom, C., Collins, R. L., Pillalamarri, V., Lee, D.-Y., Kammin, T., Zepeda-Mendoza, C. J., Mononen, T., Nolan, L. S., Gusella, J. F., Talkowski, M. E., Shen, J., & Morton, C. C. (2016). Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay. European journal of human genetics : EJHG, 24(11), 1622-1626. https://doi.org/10.1038/ejhg.2016.64

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

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.",

keywords = "Journal Article",

author = "Schilit, {Samantha Lp} and Currall, {Benjamin B} and Ruen Yao and Carrie Hanscom and Collins, {Ryan L} and Vamsee Pillalamarri and Dong-Young Lee and Tammy Kammin and Zepeda-Mendoza, {Cinthya J} and Tarja Mononen and Nolan, {Lisa S} and Gusella, {James F} and Talkowski, {Michael E} and Jun Shen and Morton, {Cynthia C}",

year = "2016",

month = nov,

doi = "10.1038/ejhg.2016.64",

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Schilit, SL, Currall, BB, Yao, R, Hanscom, C, Collins, RL, Pillalamarri, V, Lee, D-Y, Kammin, T, Zepeda-Mendoza, CJ, Mononen, T, Nolan, LS, Gusella, JF, Talkowski, ME, Shen, J & Morton, CC 2016, 'Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay', European journal of human genetics : EJHG, vol. 24, no. 11, pp. 1622-1626. https://doi.org/10.1038/ejhg.2016.64

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T1 - Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay

AU - Schilit, Samantha Lp

AU - Currall, Benjamin B

AU - Yao, Ruen

AU - Hanscom, Carrie

AU - Collins, Ryan L

AU - Pillalamarri, Vamsee

AU - Lee, Dong-Young

AU - Kammin, Tammy

AU - Zepeda-Mendoza, Cinthya J

AU - Mononen, Tarja

AU - Nolan, Lisa S

AU - Gusella, James F

AU - Talkowski, Michael E

AU - Shen, Jun

AU - Morton, Cynthia C

PY - 2016/11

Y1 - 2016/11

N2 - 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.

AB - 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.

KW - Journal Article

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DO - 10.1038/ejhg.2016.64

M3 - Article

C2 - 27381092

SN - 1018-4813

VL - 24

SP - 1622

EP - 1626

JO - European journal of human genetics : EJHG

JF - European journal of human genetics : EJHG

IS - 11

ER -

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

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Manchester Centre for Audiology and Deafness (ManCAD)

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