OMIA:002479-9913 : Hemifacial microsomia, LAMB1-related in Bos taurus (taurine cattle)
Categories: Craniofacial phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: 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)."
Have human generated variants been created, e.g. through genetic engineering and gene editing
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%."
Romagnola (Cattle) (VBO_0000360).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LAMB1||laminin subunit beta 1||Bos taurus||4||NC_037331.1 (49062382..48985684)||LAMB1||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1387||Romagnola (Cattle)||Hemifacial microsomia||LAMB1||HFM||missense||Naturally occurring variant||ARS-UCD1.2||4||g.49019693G>A||c.2002C>T||p.(R668C)||NM_001206519.1; NP_001193448.1;||2022||34796979|
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2022||Jacinto, J.G.P., Häfliger, I.M., Bernardini, M., Mandara, M.T., Bianchi, E., Bolcato, M., Romagnoli, N., Gentile, A., Drögemüller, C. :|
|A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle. J Vet Intern Med 36:292-299, 2022. Pubmed reference: 34796979. DOI: 10.1111/jvim.16316.|
|Jacinto, J.G.P., Sbarra, F., Quaglia, A., Gentile, A., Drögemüller, C. :|
|Short communication: Prevalence of deleterious variants causing recessive disorders in Italian Chianina, Marchigiana and Romagnola cattle. Animal 16:100569, 2022. Pubmed reference: 35717834. DOI: 10.1016/j.animal.2022.100569.|
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