Hemifacial microsomia (HFM) was diagnosed in a 9-day-old Romagnola calf. The con- dition 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 temporoman- dibular 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.

A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle

Jacinto, Joana G. P.
;
Bianchi, Ezio;Bolcato, Marilena;Romagnoli, Noemi;Gentile, Arcangelo;
2022

Abstract

Hemifacial microsomia (HFM) was diagnosed in a 9-day-old Romagnola calf. The con- dition 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 temporoman- dibular 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.
Jacinto, Joana G. P.; Häfliger, Irene M.; Bernardini, Marco; Mandara, Maria Teresa; Bianchi, Ezio; Bolcato, Marilena; Romagnoli, Noemi; Gentile, Arcangelo; Drögemüller, Cord
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11585/839035
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