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E-pub ahead of print

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

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  • Helena Gásdal Karstensen
  • Nanna Dahl Rendtorff
  • Lone Sandbjerg Hindbæk
  • Roberto Colombo
  • Amelie Stein
  • Niels Holtum Birkebæk
  • Rasmus Hartmann-Petersen
  • Kresten Lindorff-Larsen
  • Allan Thomas Højland
  • Michael Bjørn Petersen
  • Lisbeth Tranebjærg
Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftEuropean Journal of Medical Genetics
Sider (fra-til)103733
ISSN1769-7212
DOI
StatusE-pub ahead of print - 23 aug. 2019

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Copyright © 2019 Elsevier Masson SAS. All rights reserved.

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