Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  2. First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Deciphering the premature mortality in PIGA-CDG - An untold story

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  4. Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Publikation: AndetAndet bidragFormidling

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
Artikelnummer103733
TidsskriftEuropean Journal of Medical Genetics
Vol/bind63
Udgave nummer3
ISSN1769-7212
DOI
StatusUdgivet - mar. 2020

Bibliografisk note

Copyright © 2019 Elsevier Masson SAS. All rights reserved.

ID: 58279868