Categories: Craniofacial phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 150240 (gene) , 164210 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2022

Molecular basis: Jacinto et al. (2022): "A trio whole-genome sequencing approach was carried out and identified a private homozygous missense variant in LAMB1 affecting a conserved residue (p.Arg668Cys)."

Clinical features: Jacinto et al. (2022): "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."

Pathology: Jacinto et al. (2022): "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."

Prevalence: JAcinto et al. (2022): "Genotyping of 221 Romagnola bulls revealed a carrier prevalence <2%."

Breed: Romagnola (Cattle) (VBO_0000360).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: