OMIA 002479-9913 : Hemifacial microsomia, LAMB1-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 150240 (gene) , 164210 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: unknown

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.

Associated gene:

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

Variants

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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 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

Reference


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.

Edit History


  • Created by Imke Tammen2 on 24 Nov 2021
  • Changed by Imke Tammen2 on 24 Nov 2021
  • Changed by Imke Tammen2 on 29 Jan 2022