OMIA 001401-10036 : Waardenburg syndrome, type 2A in Mesocricetus auratus

In other species: pig

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 193510 (trait) , 156845 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2003

Molecular basis: A T>A base substitution in intron 6 of MITF leads to the skipping of exon 7 and a premature termination.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MITF microphthalmia-associated transcription factor Mesocricetus auratus NW_024429266.1 (158718616..158929118) MITF 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
385 Waardenburg syndrome, type 2A MITF splicing Naturally occurring variant A T>A base substitution in intron 6 of MITF leads to the skipping of exon 7 and a premature termination. 2003 12871913

Reference


2003 Graw, J., Pretsch, W., Löster, J. :
Mutation in intron 6 of the hamster Mitf gene leads to skipping of the subsequent exon and creates a novel animal model for the human Waardenburg syndrome type II. Genetics 164:1035-41, 2003. Pubmed reference: 12871913.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 24 Oct 2011
  • Changed by Frank Nicholas on 08 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012