A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle.
Bos taurus
WGS
development
microtia
precision medicine
rare disease
Journal
Journal of veterinary internal medicine
ISSN: 1939-1676
Titre abrégé: J Vet Intern Med
Pays: United States
ID NLM: 8708660
Informations de publication
Date de publication:
Jan 2022
Jan 2022
Historique:
revised:
04
11
2021
received:
11
06
2021
accepted:
05
11
2021
pubmed:
20
11
2021
medline:
27
1
2022
entrez:
19
11
2021
Statut:
ppublish
Résumé
Hemifacial microsomia (HFM) was diagnosed in a 9-day-old Romagnola calf. The condition was characterized by microtia of the left ear, anotia of the right ear, asymmetry of the face, and deafness. Magnetic resonance imaging revealed agenesis of the right pinna and both tympanic bullae, asymmetry of the temporal bones and temporomandibular joints, and right pontine meningocele. Brainstem auditory evoked responses confirmed the impaired auditory capacity. At gross post mortem examination, there was agenesis and hypoplasia of the right and the left external ear, respectively. No histological abnormalities were detected in the inner ears. A trio whole-genome sequencing approach was carried out and identified a private homozygous missense variant in LAMB1 affecting a conserved residue (p.Arg668Cys). Genotyping of 221 Romagnola bulls revealed a carrier prevalence <2%. This represents a report of a LAMB1-related autosomal recessive inherited disorder in domestic animals and adds LAMB1 to the candidate genes for HFM.
Identifiants
pubmed: 34796979
doi: 10.1111/jvim.16316
pmc: PMC8783352
doi:
Substances chimiques
Laminin
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
292-299Subventions
Organisme : This research was partially funded by Swiss National Science foundation
ID : 172911
Informations de copyright
© 2021 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine.
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