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Gene Review:

SHFM5 - split hand/foot malformation...

Homo sapiens

Bijlsma, E.K. et al., Kang, Y.S. et al.

Bijlsma, Knegt, Bilardo, Goodman,

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High impact information on SHFM5

Moreover, the striking malformations affecting all four of the fetus' limbs support previous suggestions that a novel locus for split-hand/foot malformation (SHFM5) lies on chromosome 2q31 [1].
We also performed mutation screening by SSCP and DNA sequencing, as well as loss of heterozygosity (LOH) analysis, to exclude the possibility that SHFM4 or SHFM5 were involved; these revealed no mutations in gene p63 and no LOH on 2q31, respectively [2].

Analytical, diagnostic and therapeutic context of SHFM5

Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus [1].

References

Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus. Bijlsma, E.K., Knegt, A.C., Bilardo, C.M., Goodman, F.R. Prenat. Diagn. (2005) [Pubmed]
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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