Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats

Leslie A Lyons, Carolyn A. Erdman, Robert A Grahn, Michael J. Hamilton, Michael J. Carter, Christopher R. Helps, Hasan Alhaddad, Barbara Gandolfi

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11 Scopus citations


Frontonasal dysplasia (FND) can have severe presentations that are medically and socially debilitating. Several genes are implicated in FND conditions, including Aristaless-Like Homeobox 1 (ALX1), which is associated with FND3. Breeds of cats are selected and bred for extremes in craniofacial morphologies. In particular, a lineage of Burmese cats with severe brachycephyla is extremely popular and is termed Contemporary Burmese. Genetic studies demonstrated that the brachycephyla of the Contemporary Burmese is a simple co-dominant trait, however, the homozygous cats have a severe craniofacial defect that is incompatible with life. The craniofacial defect of the Burmese was genetically analyzed over a 20 year period, using various genetic analysis techniques. Family-based linkage analysis localized the trait to cat chromosome B4. Genome-wide association studies and other genetic analyses of SNP data refined a critical region. Sequence analysis identified a 12 bp in frame deletion in ALX1, c.496delCTCTCAGGACTG, which is 100% concordant with the craniofacial defect and not found in cats not related to the Contemporary Burmese.

Original languageEnglish (US)
Pages (from-to)451-458
Number of pages8
JournalDevelopmental Biology
Issue number2
StatePublished - 2016



  • CART1
  • Cartilage homeo protein 1
  • Domestic cat
  • Facial development
  • Felis silvestris catus
  • FND
  • Frontonasal dysplasia

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Biology
  • Cell Biology

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