OMIA 002309-9646 : Cataract, MIP-related in Ailuropoda melanoleuca

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 615274 , 154050

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2021

Species-specific name: Cataract

Molecular basis: Bai et al. (2021): "we used a functional candidate gene screening approach to identify mutations associated with cataracts in a captive giant panda (Ailuropoda melanoleuca). We screened 11 genes often associated with human cataracts and identified a novel missense mutation (c.686G > A) in the MIP gene encoding major intrinsic protein. ... The c.686G > A mutation was found in a captive giant panda with a unilateral cataract but not in 18 controls from diverse regions in China, suggesting it is most likely a genuine disease-associated mutation rather than a single-nucleotide polymorphism. The mutation could therefore serve as a new genetic marker to predict the risk of congenital cataracts in captive giant pandas."

Clinical features: Bai et al. (2021): "The proband in this study was Jini, a giant panda born in 1993. ... Jini’s mild cataract symptoms were first observed in 2013, and in 2017 the lesion was diagnosed as a unilateral senile (age-related) cataract following a professional examination by an ophthalmologist."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MIP major intrinsic protein of lens fiber Ailuropoda melanoleuca 15 NC_048232.1 (33716297..33712762) MIP 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.

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
Cataract MIP missense c.686G>A p.(S229N) 2021 33530927

Reference


2021 Bai, C., You, Y., Liu, X., Xia, M., Wang, W., Jia, T., Pu, T., Lu, Y., Zhang, C., Li, X., Yin, Y., Wang, L., Zhou, J., Niu, L. :
A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a giant panda with unilateral cataract formation. BMC Genomics 22:100, 2021. Pubmed reference: 33530927. DOI: 10.1186/s12864-021-07386-8.

Edit History


  • Created by Imke Tammen2 on 18 Feb 2021
  • Changed by Imke Tammen2 on 18 Feb 2021