1. A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle
- Author
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Jacinto, Joana G. P., H��fliger, Irene M., Bernardini, Marco, Mandara, Maria Teresa, Bianchi, Ezio, Bolcato, Marilena, Romagnoli, Noemi, Gentile, Arcangelo, Dr��gem��ller, Cord, Jacinto, Joana G. P., Häfliger, Irene M., Bernardini, Marco, Mandara, Maria Teresa, Bianchi, Ezio, Bolcato, Marilena, Romagnoli, Noemi, Gentile, Arcangelo, and Drögemüller, Cord
- 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 - 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
- Published
- 2021
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