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Gene Review

MIPOL1  -  mirror-image polydactyly 1

Homo sapiens

Synonyms: Mirror-image polydactyly gene 1 protein
 
 
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Disease relevance of MIPOL1

 

High impact information on MIPOL1

  • Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome [2].
  • MIPOL1 spans about 350kb, comprises 15 exons, and encodes 442 amino acids [3].
  • In view of the genome sequence and the contig map constructed, the 14q13 breakpoint of the patient was identified as located in intron 11 of MIPOL1, indicating that the gene was disrupted by the translocation, and that the breakage resulted in MIPOL1 protein truncation [3].
  • Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis [4].
 

Analytical, diagnostic and therapeutic context of MIPOL1

References

  1. Mirror foot. Skoll, P.J., Silfen, R., Hudson, D.A., Bloch, C.E. Plast. Reconstr. Surg. (2000) [Pubmed]
  2. Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome. Kamnasaran, D., O'Brien, P.C., Zackai, E.H., Muenke, M., Ferguson-Smith, M.A., Cox, D.W. Eur. J. Hum. Genet. (2003) [Pubmed]
  3. A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. Kondoh, S., Sugawara, H., Harada, N., Matsumoto, N., Ohashi, H., Sato, M., Kantaputra, P.N., Ogino, T., Tomita, H., Ohta, T., Kishino, T., Fukushima, Y., Niikawa, N., Yoshiura, K. J. Hum. Genet. (2002) [Pubmed]
  4. Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. Wechsler, S.B., Lehoczky, J.A., Hall, J.G., Innis, J.W. Clin. Dysmorphol. (2004) [Pubmed]
 
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