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MeSH Review:

Nail-Patella Syndrome

Miner, J.H. et al., Dreyer, S.D. et al., Morello, R. et al., Greenspan, D.S. et al., Marini, M. et al., et al.

Miner, Morello, Andrews, Li, Antignac, Shaw, Lee,

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High impact information on Nail-Patella Syndrome

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome [1].
Nail patella syndrome (NPS) is caused by mutations in LMX1B, encoding a LIM homeodomain transcription factor [1].
Targeted disruption of Lmx1b results in skeletal defects including hypoplastic nails, absent patellae and a unique form of renal dysplasia (see accompanying manuscript by H. Chen et al.; ref. 2). These features are reminiscent of the dominantly inherited skeletal malformation nail patella syndrome (NPS) [2].
Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome [3].
Possible linkage between the COL5A1 gene and the gene for nail-patella syndrome has been suggested [4].

Chemical compound and disease context of Nail-Patella Syndrome

Nail-patella syndrome: hereditary onchyo-osteodysplasia diagnosis by Tc-99m MDP bone scan [5].

Biological context of Nail-Patella Syndrome

LMX1B transactivation and expression in nail-patella syndrome [6].
Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome [7].
Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome [8].

Gene context of Nail-Patella Syndrome

Mutations in LMX1B cause nail-patella syndrome (NPS), an autosomal dominant disease with skeletal abnormalities, nail hypoplasia, and nephropathy [9].
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome [10].
In addition, these studies place COL5A1 near the locus for the genetic disorder, nail-patella syndrome (hereditary osteo-onychodysplasia), which also maps to 9q34 [11].
Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome [12].
Sensorineural hearing loss and nail patella syndrome [13].

References

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Morello, R., Zhou, G., Dreyer, S.D., Harvey, S.J., Ninomiya, Y., Thorner, P.S., Miner, J.H., Cole, W., Winterpacht, A., Zabel, B., Oberg, K.C., Lee, B. Nat. Genet. (2001) [Pubmed]
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Dreyer, S.D., Zhou, G., Baldini, A., Winterpacht, A., Zabel, B., Cole, W., Johnson, R.L., Lee, B. Nat. Genet. (1998) [Pubmed]
Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome. Hamlington, J.D., Clough, M.V., Dunston, J.A., McIntosh, I. Eur. J. Hum. Genet. (2000) [Pubmed]
Inherited diseases of the glomerular basement membrane. Bodziak, K.A., Hammond, W.S., Molitoris, B.A. Am. J. Kidney Dis. (1994) [Pubmed]
Nail-patella syndrome: hereditary onchyo-osteodysplasia diagnosis by Tc-99m MDP bone scan. Howard, J.L., Moore, W.H., Dhekne, R.D. Clinical nuclear medicine. (1990) [Pubmed]
LMX1B transactivation and expression in nail-patella syndrome. Dreyer, S.D., Morello, R., German, M.S., Zabel, B., Winterpacht, A., Lunstrum, G.P., Horton, W.A., Oberg, K.C., Lee, B. Hum. Mol. Genet. (2000) [Pubmed]
Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome. Marini, M., Giacopelli, F., Seri, M., Ravazzolo, R. Eur. J. Hum. Genet. (2005) [Pubmed]
Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome. Seri, M., Melchionda, S., Dreyer, S., Marini, M., Carella, M., Cusano, R., Piemontese, M.R., Caroli, F., Silengo, M., Zelante, L., Romeo, G., Ravazzolo, R., Gasparini, P., Lee, B. Int. J. Mol. Med. (1999) [Pubmed]
Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. Miner, J.H., Morello, R., Andrews, K.L., Li, C., Antignac, C., Shaw, A.S., Lee, B. J. Clin. Invest. (2002) [Pubmed]
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Chen, H., Lun, Y., Ovchinnikov, D., Kokubo, H., Oberg, K.C., Pepicelli, C.V., Gan, L., Lee, B., Johnson, R.L. Nat. Genet. (1998) [Pubmed]
Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome. Greenspan, D.S., Byers, M.G., Eddy, R.L., Cheng, W., Jani-Sait, S., Shows, T.B. Genomics (1992) [Pubmed]
Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome. Marini, M., Bongers, E.M., Cusano, R., Di Duca, M., Seri, M., Knoers, N.V., Ravazzolo, R. Int. J. Mol. Med. (2003) [Pubmed]
Sensorineural hearing loss and nail patella syndrome. Hussain, S.S., Hope, G.A. Arch. Otolaryngol. Head Neck Surg. (1994) [Pubmed]

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