---
res:
  bibo_abstract:
  - Aminoacyl-tRNA synthetases (ARSs) are essential enzymes for faithful assignment
    of amino acids to their cognate tRNA. Variants in ARS genes are frequently associated
    with clinically heterogeneous phenotypes in humans and follow both autosomal dominant
    or recessive inheritance patterns in many instances. Variants in tryptophanyl-tRNA
    synthetase 1 (WARS1) cause autosomal dominantly inherited distal hereditary motor
    neuropathy and Charcot-Marie-Tooth disease. Presently, only one family with biallelic
    WARS1 variants has been described. We present three affected individuals from
    two families with biallelic variants (p.Met1? and p.(Asp419Asn)) in WARS1, showing
    varying severities of developmental delay and intellectual disability. Hearing
    impairment and microcephaly, as well as abnormalities of the brain, skeletal system,
    movement/gait, and behavior were variable features. Phenotyping of knocked down
    wars-1 in a Caenorhabditis elegans model showed depletion is associated with defects
    in germ cell development. A wars1 knockout vertebrate model recapitulates the
    human clinical phenotypes, confirms variant pathogenicity, and uncovers evidence
    implicating the p.Met1? variant as potentially impacting an exon critical for
    normal hearing. Together, our findings provide consolidating evidence for biallelic
    disruption of WARS1 as causal for an autosomal recessive neurodevelopmental syndrome
    and present a vertebrate model that recapitulates key phenotypes observed in patients.@eng
  bibo_authorlist:
  - foaf_Person:
      foaf_givenName: Sheng-Jia
      foaf_name: Lin, Sheng-Jia
      foaf_surname: Lin
  - foaf_Person:
      foaf_givenName: Barbara
      foaf_name: Vona, Barbara
      foaf_surname: Vona
  - foaf_Person:
      foaf_givenName: Hillary M.
      foaf_name: Porter, Hillary M.
      foaf_surname: Porter
  - foaf_Person:
      foaf_givenName: Mahmoud
      foaf_name: Izadi, Mahmoud
      foaf_surname: Izadi
  - foaf_Person:
      foaf_givenName: Kevin
      foaf_name: Huang, Kevin
      foaf_surname: Huang
      foaf_workInfoHomepage: http://www.librecat.org/personId=3b3d2888-1ff6-11ee-9fa6-8f209ca91fe3
    orcid: 0000-0002-2512-7812
  - foaf_Person:
      foaf_givenName: Yves
      foaf_name: Lacassie, Yves
      foaf_surname: Lacassie
  - foaf_Person:
      foaf_givenName: Jill A.
      foaf_name: Rosenfeld, Jill A.
      foaf_surname: Rosenfeld
  - foaf_Person:
      foaf_givenName: Saadullah
      foaf_name: Khan, Saadullah
      foaf_surname: Khan
  - foaf_Person:
      foaf_givenName: Cassidy
      foaf_name: Petree, Cassidy
      foaf_surname: Petree
  - foaf_Person:
      foaf_givenName: Tayyiba A.
      foaf_name: Ali, Tayyiba A.
      foaf_surname: Ali
  - foaf_Person:
      foaf_givenName: Nazif
      foaf_name: Muhammad, Nazif
      foaf_surname: Muhammad
  - foaf_Person:
      foaf_givenName: Sher A.
      foaf_name: Khan, Sher A.
      foaf_surname: Khan
  - foaf_Person:
      foaf_givenName: Noor
      foaf_name: Muhammad, Noor
      foaf_surname: Muhammad
  - foaf_Person:
      foaf_givenName: Pengfei
      foaf_name: Liu, Pengfei
      foaf_surname: Liu
  - foaf_Person:
      foaf_givenName: Marie-Louise
      foaf_name: Haymon, Marie-Louise
      foaf_surname: Haymon
  - foaf_Person:
      foaf_givenName: Franz
      foaf_name: Rueschendorf, Franz
      foaf_surname: Rueschendorf
  - foaf_Person:
      foaf_givenName: Il-Keun
      foaf_name: Kong, Il-Keun
      foaf_surname: Kong
  - foaf_Person:
      foaf_givenName: Linda
      foaf_name: Schnapp, Linda
      foaf_surname: Schnapp
  - foaf_Person:
      foaf_givenName: Natasha
      foaf_name: Shur, Natasha
      foaf_surname: Shur
  - foaf_Person:
      foaf_givenName: Lynn
      foaf_name: Chorich, Lynn
      foaf_surname: Chorich
  - foaf_Person:
      foaf_givenName: Lawrence
      foaf_name: Layman, Lawrence
      foaf_surname: Layman
  - foaf_Person:
      foaf_givenName: Thomas
      foaf_name: Haaf, Thomas
      foaf_surname: Haaf
  - foaf_Person:
      foaf_givenName: Ehsan
      foaf_name: Pourkarimi, Ehsan
      foaf_surname: Pourkarimi
  - foaf_Person:
      foaf_givenName: Hyung-Goo
      foaf_name: Kim, Hyung-Goo
      foaf_surname: Kim
  - foaf_Person:
      foaf_givenName: Gaurav K.
      foaf_name: Varshney, Gaurav K.
      foaf_surname: Varshney
  bibo_doi: 10.1002/humu.24435
  bibo_issue: '10'
  bibo_volume: 43
  dct_date: 2022^xs_gYear
  dct_isPartOf:
  - http://id.crossref.org/issn/1059-7794
  dct_language: eng
  dct_publisher: Wiley@
  dct_subject:
  - autosomal recessive
  - biallelic variants
  - C
  - elegans
  - translation initiation sites
  - tryptophanyl-tRNA synthetase 1 (WARS1)
  - WHEP domain
  - zebrafish
  dct_title: Biallelic variants in WARS1 cause a highly variable neurodevelopmental
    syndrome and implicate a critical exon for normal auditory function@
...