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A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle
- Source :
- Journal of Veterinary Internal Medicine, Journal of Veterinary Internal Medicine, Vol 36, Iss 1, Pp 292-299 (2022), Jacinto, Joana G. P.; Häfliger, Irene M.; Bernardini, Marco; Mandara, Maria Teresa; Bianchi, Ezio; Bolcato, Marilena; Romagnoli, Noemi; Gentile, Arcangelo; Drögemüller, Cord (2022). A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle. Journal of veterinary internal medicine, 36(1), pp. 292-299. Wiley-Blackwell 10.1111/jvim.16316
- Publication Year :
- 2021
- Publisher :
- Wiley-Blackwell, 2021.
-
Abstract
- 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
- Subjects :
- Male
Veterinary medicine
precision medicine
Cattle Diseases
rare disease
610 Medicine & health
Case Report
FOOD AND FIBER
Goldenhar Syndrome
SF600-1100
Genetics
otorhinolaryngologic diseases
Animals
development
630 Agriculture
Homozygote
Bos taurus
Bos taurus, development, microtia, precision medicine, rare disease, WGS
WGS
microtia
Cattle
Facial Asymmetry
Laminin
Mutation
Mutation, Missense
590 Animals (Zoology)
570 Life sciences
biology
Missense
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Journal of Veterinary Internal Medicine, Journal of Veterinary Internal Medicine, Vol 36, Iss 1, Pp 292-299 (2022), Jacinto, Joana G. P.; Häfliger, Irene M.; Bernardini, Marco; Mandara, Maria Teresa; Bianchi, Ezio; Bolcato, Marilena; Romagnoli, Noemi; Gentile, Arcangelo; Drögemüller, Cord (2022). A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle. Journal of veterinary internal medicine, 36(1), pp. 292-299. Wiley-Blackwell 10.1111/jvim.16316 <http://dx.doi.org/10.1111/jvim.16316>
- Accession number :
- edsair.doi.dedup.....e854b1579e26f027dee1558f4df08c74
- Full Text :
- https://doi.org/10.48350/161431