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Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

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Harvard

Karstensen, HG, Rendtorff, ND, Hindbæk, LS, Colombo, R, Stein, A, Birkebæk, NH, Hartmann-Petersen, R, Lindorff-Larsen, K, Højland, AT, Petersen, MB & Tranebjærg, L 2020, 'Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome' European Journal of Medical Genetics, bind 63, nr. 3, s. 103733. https://doi.org/10.1016/j.ejmg.2019.103733

APA

CBE

Karstensen HG, Rendtorff ND, Hindbæk LS, Colombo R, Stein A, Birkebæk NH, Hartmann-Petersen R, Lindorff-Larsen K, Højland AT, Petersen MB, Tranebjærg L. 2020. Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. European Journal of Medical Genetics. 63(3):103733. https://doi.org/10.1016/j.ejmg.2019.103733

MLA

Vancouver

Author

Karstensen, Helena Gásdal ; Rendtorff, Nanna Dahl ; Hindbæk, Lone Sandbjerg ; Colombo, Roberto ; Stein, Amelie ; Birkebæk, Niels Holtum ; Hartmann-Petersen, Rasmus ; Lindorff-Larsen, Kresten ; Højland, Allan Thomas ; Petersen, Michael Bjørn ; Tranebjærg, Lisbeth. / Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome. I: European Journal of Medical Genetics. 2020 ; Bind 63, Nr. 3. s. 103733.

Bibtex

@article{d801809f341a498fadb6e80700830dee,
title = "Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome",
abstract = "Biallelic variants in HARS2 have been associated with Perrault syndrome, characterized by sensorineural hearing impairment and premature ovarian insufficiency. Here we report three novel families, compound heterozygous for missense variants in HARS2 identified by next-generation sequencing, namely c.172A > G (p.Lys58Glu) and c.448C > T (p.Arg150Cys) identified in two sisters aged 13 and 16 years and their older brother, c.448C > T (p.Arg150Cys) and c.980G > A (p.Arg327Gln) identified in a seven year old girl, and finally c.137T > A (p.Leu46Gln) and c.259C > T (p.Arg87Cys) identified in a 32 year old woman. Clinically, all five individuals presented with early onset, rapidly progressive hearing impairment. Whereas the oldest female fulfilled the criteria of Perrault syndrome, the three younger females, aged 7, 13 and 16, all had apparently normal ovarian function, apart from irregular menstrual periods in the oldest female at age 16. The present report expands the list of HARS2 variants and helps gain further knowledge to the phenotype.",
keywords = "HARS2, Next-generation sequencing, Perrault syndrome, Premature ovarian insufficiency, Sensorineural hearing impairment",
author = "Karstensen, {Helena G{\'a}sdal} and Rendtorff, {Nanna Dahl} and Hindb{\ae}k, {Lone Sandbjerg} and Roberto Colombo and Amelie Stein and Birkeb{\ae}k, {Niels Holtum} and Rasmus Hartmann-Petersen and Kresten Lindorff-Larsen and H{\o}jland, {Allan Thomas} and Petersen, {Michael Bj{\o}rn} and Lisbeth Tranebj{\ae}rg",
note = "Copyright {\circledC} 2019 Elsevier Masson SAS. All rights reserved.",
year = "2020",
month = "3",
doi = "10.1016/j.ejmg.2019.103733",
language = "English",
volume = "63",
pages = "103733",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier France Editions Scientifiques et Medicales",
number = "3",

}

RIS

TY - JOUR

T1 - Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

AU - Karstensen, Helena Gásdal

AU - Rendtorff, Nanna Dahl

AU - Hindbæk, Lone Sandbjerg

AU - Colombo, Roberto

AU - Stein, Amelie

AU - Birkebæk, Niels Holtum

AU - Hartmann-Petersen, Rasmus

AU - Lindorff-Larsen, Kresten

AU - Højland, Allan Thomas

AU - Petersen, Michael Bjørn

AU - Tranebjærg, Lisbeth

N1 - Copyright © 2019 Elsevier Masson SAS. All rights reserved.

PY - 2020/3

Y1 - 2020/3

N2 - Biallelic variants in HARS2 have been associated with Perrault syndrome, characterized by sensorineural hearing impairment and premature ovarian insufficiency. Here we report three novel families, compound heterozygous for missense variants in HARS2 identified by next-generation sequencing, namely c.172A > G (p.Lys58Glu) and c.448C > T (p.Arg150Cys) identified in two sisters aged 13 and 16 years and their older brother, c.448C > T (p.Arg150Cys) and c.980G > A (p.Arg327Gln) identified in a seven year old girl, and finally c.137T > A (p.Leu46Gln) and c.259C > T (p.Arg87Cys) identified in a 32 year old woman. Clinically, all five individuals presented with early onset, rapidly progressive hearing impairment. Whereas the oldest female fulfilled the criteria of Perrault syndrome, the three younger females, aged 7, 13 and 16, all had apparently normal ovarian function, apart from irregular menstrual periods in the oldest female at age 16. The present report expands the list of HARS2 variants and helps gain further knowledge to the phenotype.

AB - Biallelic variants in HARS2 have been associated with Perrault syndrome, characterized by sensorineural hearing impairment and premature ovarian insufficiency. Here we report three novel families, compound heterozygous for missense variants in HARS2 identified by next-generation sequencing, namely c.172A > G (p.Lys58Glu) and c.448C > T (p.Arg150Cys) identified in two sisters aged 13 and 16 years and their older brother, c.448C > T (p.Arg150Cys) and c.980G > A (p.Arg327Gln) identified in a seven year old girl, and finally c.137T > A (p.Leu46Gln) and c.259C > T (p.Arg87Cys) identified in a 32 year old woman. Clinically, all five individuals presented with early onset, rapidly progressive hearing impairment. Whereas the oldest female fulfilled the criteria of Perrault syndrome, the three younger females, aged 7, 13 and 16, all had apparently normal ovarian function, apart from irregular menstrual periods in the oldest female at age 16. The present report expands the list of HARS2 variants and helps gain further knowledge to the phenotype.

KW - HARS2

KW - Next-generation sequencing

KW - Perrault syndrome

KW - Premature ovarian insufficiency

KW - Sensorineural hearing impairment

U2 - 10.1016/j.ejmg.2019.103733

DO - 10.1016/j.ejmg.2019.103733

M3 - Journal article

VL - 63

SP - 103733

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 3

ER -

ID: 58279868