OMIA 001958-9913 : Growth retardation due to haplotype FH2 in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 227810

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Mapping: Chromosome 1: 96,169,900-97,123,740 (UMD3.1 genome assembly) (Pausch et al., 2015)

Molecular basis: Frameshift indel: c.771_778delTTGAAAAGinsCATC (rs379675307) in SLC2A2 that encodes glucose transporter 2 (GLUT2)(Pausch et al., 2015).

Burgstaller et al. (2016) have provided strong evidence that this FH2 frameshift mutation is actually causative of Fanconi-Bickel syndrome (OMIA 000366-9913). Accordingly, the likely causal mutation is now listed under this disorder rather than in this entry.

Breed: Fleckvieh.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 Bos taurus 1 NC_037328.1 (96452863..96485584) SLC2A2 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Fleckvieh Abortion due to haplotype FH2 SLC2A2 indel, small (<=20) UMD3.1 1 g.97239973_97239976delTTGAAAAG c.771_778delTTGAAAAGinsCATC rs379675307 2015 25927203 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446

References


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.
2016 Burgstaller, J., Url, A., Pausch, H., Schwarzenbacher, H., Egerbacher, M., Wittek, T. :
Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2). Berl Munch Tierarztl Wochenschr 129:132-7, 2016. Pubmed reference: 27169150.
2015 Pausch, H., Schwarzenbacher, H., Burgstaller, J., Flisikowski, K., Wurmser, C., Jansen, S., Jung, S., Schnieke, A., Wittek, T., Fries, R. :
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle. BMC Genomics 16:312, 2015. Pubmed reference: 25927203. DOI: 10.1186/s12864-015-1483-7.

Edit History


  • Created by Frank Nicholas on 28 Apr 2015
  • Changed by Frank Nicholas on 30 Apr 2015
  • Changed by Frank Nicholas on 13 Apr 2016