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Gene Review

SHFM2  -  split hand/foot malformation...

Homo sapiens

Synonyms: SHFD2, SHSF2
 
 
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High impact information on SHFM2

  • The disorder is genetically heterogeneous, with at least two loci thus far determined: an autosomal locus at 7q21 designated SHFM1 and an X-linked locus at Xq26 designated SHFM2 [1].
 

Biological context of SHFM2

  • Three disease loci have recently been mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q25 respectively (SHFM3) [2].
  • Pedigree analysis showed that the Korean SHFM was autosomally dominant and its penetrance was high, indicating that it was not caused by SHFM2 [3].

References

  1. A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. Nunes, M.E., Schutt, G., Kapur, R.P., Luthardt, F., Kukolich, M., Byers, P., Evans, J.P. Hum. Mol. Genet. (1995) [Pubmed]
  2. Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. Raas-Rothschild, A., Manouvrier, S., Gonzales, M., Farriaux, J.P., Lyonnet, S., Munnich, A. J. Med. Genet. (1996) [Pubmed]
  3. Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). Kang, Y.S., Cheong, H.M., Moon, Y., Lee, I.B., Kim, S.M., Kim, H.S., Jun, S.Y., Jung, S.K., Kim, J.S., Choi, J.H., Cho, H.E., Son, J.S., Min, N.Y., Lee, K.H. Mol. Cells (2004) [Pubmed]
 
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