nail patella syndrome

Summary

Summary: A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait.

Top Publications

  1. Chua H, Tan L, Tan H, Tan A, Choong H. The course of pregnancy in a patient with nail-patella syndrome. Ann Acad Med Singapore. 2002;31:349-52 pubmed
    ..The nail-patella syndrome is a rare autosomal dominant condition with high penetrance. Pregnancy in such a patient is rare and we believe this to be the first report of a live birth occurring in a patient with nail-patella syndrome...
  2. McIntosh I, Dreyer S, Clough M, Dunston J, Eyaid W, Roig C, et al. Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am J Hum Genet. 1998;63:1651-8 pubmed
    ..The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations...
  3. Hamlington J, Jones C, McIntosh I. Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients. Hum Mutat. 2001;18:458 pubmed
    ..in the gene encoding the transcription factor LMX1B, previously shown to be mutated in persons with Nail Patella Syndrome (NPS)...
  4. Rohr C, Prestel J, Heidet L, Hosser H, Kriz W, Johnson R, et al. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. J Clin Invest. 2002;109:1073-82 pubmed
  5. Morello R, Lee B. Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes. Pediatr Res. 2002;51:551-8 pubmed
    ..Moreover, they raise intriguing questions about more global transcriptional regulation of podocyte morphogenesis...
  6. Heidet L, Bongers E, Sich M, Zhang S, Loirat C, Meyrier A, et al. In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys. Am J Pathol. 2003;163:145-55 pubmed
    ..These findings indicate that heterozygous mutations of LMX1B do not appear to dramatically affect the expression of type IV collagen chains, podocin, or CD2AP in NPS patients...
  7. Dunston J, Lin S, Park J, Malbroux M, McIntosh I. Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. Ann Hum Genet. 2005;69:1-8 pubmed
    ..The nail dysplasia observed in Nail Patella Syndrome (NPS) was selected as a quantifiable variable within a Mendelian disorder, for which data could be readily ..
  8. Clough M, Hamlington J, McIntosh I. Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. Hum Mutat. 1999;14:459-65 pubmed
    ..These findings support the hypothesis that NPS results from a 50% reduction in LMX1B function via a reduction in synthesis, disruption of secondary structure, or failure to bind DNA...
  9. Vollrath D, Jaramillo Babb V, Clough M, McIntosh I, Scott K, Lichter P, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet. 1998;7:1091-8 pubmed
    ..The results further suggest that the NPS and OAG phenotypes in the families studied result from mutations in a single gene, LMX1B...

More Information

Publications62

  1. Bongers E, de Wijs I, Marcelis C, Hoefsloot L, Knoers N. Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet. 2008;16:1240-4 pubmed publisher
    Heterozygous mutations in the LMX1B gene cause nail patella syndrome (NPS) that is associated with nail and skeletal malformations, nephropathy, and glaucoma...
  2. Bongers E, Huysmans F, Levtchenko E, de Rooy J, Blickman J, Admiraal R, et al. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005;13:935-46 pubmed
    ..We suggest that the NPS phenotype is broader than previously described and that NTG and hearing impairment are part of NPS. Further studies on modifier factors are needed to understand the mechanisms underlying phenotypic heterogeneity...
  3. McIntosh I, Dunston J, Liu L, Hoover Fong J, Sweeney E. Nail patella syndrome revisited: 50 years after linkage. Ann Hum Genet. 2005;69:349-63 pubmed
    b>Nail Patella Syndrome (NPS; OMIM #161200) is a pleiotropic condition, with a classical clinical tetrad of involvement of the nails, knees, elbows and the presence of iliac horns...
  4. Marini M, Giacopelli F, Seri M, Ravazzolo R. Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome. Eur J Hum Genet. 2005;13:789-92 pubmed
    ..Such interaction provides support to further studies on pathways underlying important developmental processes...
  5. Taguchi T, Takebayashi S, Nishimura M, Tsuru N. Nephropathy of nail-patella syndrome. Ultrastruct Pathol. 1988;12:175-83 pubmed
    ..It is concluded that the glomerular lesions in nail-patella syndrome may be caused by abnormal metabolic processes of collagen in glomeruli rather than entrapment of circulating collagen precursors...
  6. Dunston J, Reimschisel T, Ding Y, Sweeney E, Johnson R, Chen Z, et al. A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. Eur J Hum Genet. 2005;13:330-5 pubmed
    b>Nail patella syndrome (NPS) is an autosomal dominant disorder affecting development of the limb, kidney and eye. NPS is the result of heterozygous loss-of-function mutations in the LIM-homeodomain transcription factor, LMX1B...
  7. Sweeney E, Fryer A, Mountford R, Green A, McIntosh I. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet. 2003;40:153-62 pubmed
    b>Nail patella syndrome (NPS) is an autosomal dominant condition affecting the nails, skeletal system, kidneys, and eyes...
  8. Suleiman H, Heudobler D, Raschta A, Zhao Y, Zhao Q, Hertting I, et al. The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes. Dev Biol. 2007;304:701-12 pubmed
    ..We conclude that LDB1, but not E2A is a promising candidate as a modifier gene in patients with nail-patella syndrome...
  9. Mimiwati Z, Mackey D, Craig J, MacKinnon J, Rait J, Liebelt J, et al. Nail-patella syndrome and its association with glaucoma: a review of eight families. Br J Ophthalmol. 2006;90:1505-9 pubmed
    ..Mutations in the LMX1B gene were found in four North American families in whom glaucoma cosegregated with NPS...
  10. Dreyer S, Morello R, German M, Zabel B, Winterpacht A, Lunstrum G, et al. LMX1B transactivation and expression in nail-patella syndrome. Hum Mol Genet. 2000;9:1067-74 pubmed
    ..These mutations fail to act in a dominant-negative manner on wild-type LMX1B in mixing studies, thereby supporting haploinsufficiency as the mechanism underlying NPS pathogenesis...
  11. Pressman C, Chen H, Johnson R. LMX1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye. Genesis. 2000;26:15-25 pubmed
    ..One such syndrome is nail patella syndrome (NPS), caused by haploinsufficiency for the LIM-homeodomain transcription factor LMX1B...
  12. McIntosh I, Clough M, Schaffer A, Puffenberger E, Horton V, Peters K, et al. Fine mapping of the nail-patella syndrome locus at 9q34. Am J Hum Genet. 1997;60:133-42 pubmed
    ..0; theta = .00) and D9S315 (LOD = 22.0; theta = .00). Informative recombination events place the NPS locus within a 1-2-cM interval between D9S60 and the adenylate kinase gene (AK1)...
  13. Lichter P, Richards J, Downs C, Stringham H, Boehnke M, Farley F. Cosegregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol. 1997;124:506-15 pubmed
    ..To evaluate two families ascertained only for the presence of glaucoma in which both nail-patella syndrome and glaucoma occur in several generations and to determine whether the two diseases are genetically related...
  14. Dreyer S, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet. 1998;19:47-50 pubmed
    ..Chen et al.; ref. 2). These features are reminiscent of the dominantly inherited skeletal malformation nail patella syndrome (NPS)...
  15. Knoers N, Bongers E, van Beersum S, Lommen E, van Bokhoven H, Hol F. Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families. J Am Soc Nephrol. 2000;11:1762-6 pubmed
    ..In addition, evidence of a correlation between other characteristics of the NPS phenotype and specific mutations has not been found...
  16. Towers A, Clay C, Sereika S, McIntosh I, Greenspan S. Skeletal integrity in patients with nail patella syndrome. J Clin Endocrinol Metab. 2005;90:1961-5 pubmed
    b>Nail patella syndrome (NPS) is a rare autosomal dominant disorder resulting from a heterogeneous loss of function in the LMX1B gene...
  17. Zuppan C, Weeks D, Cutler D. Nail-patella glomerulopathy without associated constitutional abnormalities. Ultrastruct Pathol. 2003;27:357-61 pubmed
  18. Sato U, Kitanaka S, Sekine T, Takahashi S, Ashida A, Igarashi T. Functional characterization of LMX1B mutations associated with nail-patella syndrome. Pediatr Res. 2005;57:783-8 pubmed
    ..These results suggested that NPS is caused by loss-of-function mutations of LMX1B, and haploinsufficiency of LMX1B should be the predominant pathogenesis of NPS in humans...
  19. Duba H, Erdel M, Löffler J, Wirth J, Utermann B, Utermann G. Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier. Eur J Hum Genet. 1998;6:75-9 pubmed
    b>Nail patella syndrome (NPS) is an autosomal dominant disorder characterized by dysplasia of the nails and patella, decreased mobility of the elbow, iliac horns and in some cases nephropathy...
  20. Marini M, Bongers E, Cusano R, Di Duca M, Seri M, Knoers N, et al. Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome. Int J Mol Med. 2003;12:79-82 pubmed
  21. Chen H, Lun Y, Ovchinnikov D, Kokubo H, Oberg K, Pepicelli C, et al. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet. 1998;19:51-5 pubmed
    ..These features are similar to those present in a dominantly inherited human condition called nail patella syndrome (NPS), which also has renal involvement...
  22. Ogden J, Cross G, Guidera K, Ganey T. Nail patella syndrome. A 55-year follow-up of the original description. J Pediatr Orthop B. 2002;11:333-8 pubmed
    The long-term skeletal changes and the lack of significant clinical complaints in a 77-year-old woman with nail patella syndrome are described. Fifty-five years previously she was one of the first reported patients...
  23. Bongers E, Gubler M, Knoers N. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol. 2002;17:703-12 pubmed
    ..At present evidence for a correlation between the presence and severity of the renal and extrarenal anomalies and LMX1B genotype is lacking. This review focuses on the recent advances in clinical and molecular genetic studies of NPS...
  24. Morello R, Zhou G, Dreyer S, Harvey S, Ninomiya Y, Thorner P, et al. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet. 2001;27:205-8 pubmed
    ..b>Nail patella syndrome (NPS) is caused by mutations in LMX1B, encoding a LIM homeodomain transcription factor...
  25. Miner J, Morello R, Andrews K, Li C, Antignac C, Shaw A, et al. Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. J Clin Invest. 2002;109:1065-72 pubmed
    ..Our results indicate that reduced levels of proteins associated with foot processes and the glomerular slit diaphragm likely contribute, along with reduced levels of GBM collagens, to the nephropathy associated with NPS...
  26. Finsterer J, Stollberger C, Wanschitz J, Jaksch M, Budka H. Nail-patella syndrome associated with respiratory chain disorder. Eur Neurol. 2001;46:92-5 pubmed
    ..In conclusion, this case demonstrates that NPS may be randomly associated with RCD. NPS patients should undergo detailed cardiological and neurological investigations, in order not to overlook a double trouble partially mimicking NPS...
  27. Niemeyer P, Edlich M, Hauschild O, Baumann T, Ghanem N, Strohm P, et al. [Clinical, radiological and arthroscopical aspects in nail patella syndrome. Literature review based on an affected family]. Orthopade. 2006;35:197-203 pubmed
    b>Nail patella syndrome (NPS) is an autosomal dominant hereditary disorder affecting the nails, skeletal system, kidneys, and eyes...
  28. Buddin D, Loomis C, Shwayder T, Chang M. What syndrome is this? Nail-patella syndrome. Pediatr Dermatol. 2002;19:454-6 pubmed
  29. Gurgoze M, Poyrazoğlu M, Gunduz Z, Dusunsel R, Dursun I, Akgun H, et al. Crescentic glomerulonephritis associated with nail-patella syndrome in a 13-year-old girl. Pediatr Int. 2008;50:409-12 pubmed publisher
  30. Galloway G, Vivian A. An ophthalmic screening protocol for nail-patella syndrome. J Pediatr Ophthalmol Strabismus. 2003;40:51-3 pubmed
  31. Lin Y, Zhao J, Chen S, Zeng X, Du Q, Yang Y, et al. A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family. Bone. 2008;43:591-5 pubmed publisher
    ..This is the first report that a mutation in the LMX1B gene causes NPS in a Chinese population, which will expand the spectrum of mutations in the LMX1B gene and provide insight into the underlining pathology of NPS...
  32. Itin P, Eich G, Fistarol S. Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome. Dermatology. 2006;213:153-5 pubmed
    ..With increasing costs in the health care system, it is important to recognize diseases by specific clinical findings which are often as predictive and precise as expensive technical investigations...
  33. Lemley K. Kidney disease in nail-patella syndrome. Pediatr Nephrol. 2009;24:2345-54 pubmed publisher
    ..g. NPHS2, CD2AP), the transription of which is regulated by LMX1B...
  34. Lin W, Chen C, Wang D, Tsai F. Gene symbol: LMX1B. Disease: Nail-patella syndrome. Hum Genet. 2008;124:295-6 pubmed
  35. Oshimo T, Fukai K, Higashi N, Kitano T, Imai Y, Shintaku H, et al. A novel LMX1B nonsense mutation in a family with nail-patella syndrome. J Dermatol Sci. 2008;52:57-60 pubmed publisher
  36. Padmanabhan L, Yesodharan D, Nampoothiri S. Prenatal diagnosis of nail patella syndrome: A case report. Indian J Radiol Imaging. 2017;27:329-331 pubmed publisher
    The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation...
  37. Ghiggeri G, Caridi G, Altieri P, Pezzolo A, Gimelli G, Zuffardi O. Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?. Hum Genet. 1993;91:175-7 pubmed
    ..We suggest that monosomy for the COL5A1 gene is responsible for these connective tissue disorders. Accordingly, the nail-patella syndrome could be attributable to mutations inside the COL5A1 gene rather than to a deletion of it...
  38. Keogh C, Torreggiani W, Al Ismail K, Munk P. Musculoskeletal case 22. Nail patella syndrome. Can J Surg. 2002;45:205, 228 pubmed
  39. Nandedkar Thomas M, Scher R. An update on disorders of the nails. J Am Acad Dermatol. 2005;52:877-87 pubmed
  40. Orłowski J. [Familial nail patella-syndrome]. Chir Narzadow Ruchu Ortop Pol. 2005;70:291-4 pubmed
    ..There were not indications for surgical treatment dislocated radial heads or subluxated dysplastic patella. Genetic counseling is recomended because nail patella syndrome is an autosomal dominant disease.
  41. Finsterer J, Stollberger C, Kopsa W. Noncompaction on cardiac MRI in a patient with nail-patella syndrome and mitochondriopathy. Cardiology. 2003;100:48-9 pubmed
  42. van der Sluijs Bens J, Kleikers P. [A premature with nail defects]. Ned Tijdschr Geneeskd. 2010;154:A205 pubmed
    ..A premature neonate had hypoplastic thumbnails with triangular lunulae and an aplastic left patella, due tot nail-patella-syndrome...
  43. Dupuis C, Westra S, Makris J, Wallace E. Injuries and conditions of the extensor mechanism of the pediatric knee. Radiographics. 2009;29:877-86 pubmed publisher
  44. Goshen E, Schwartz A, Zilka L, Zwas S. Bilateral accessory iliac horns: pathognomonic findings in Nail-patella syndrome. Scintigraphic evidence on bone scan. Clin Nucl Med. 2000;25:476-7 pubmed
    ..A representative image showing these independent ossification on a Tc-99m MDP bone scan is presented. A conventional pelvic radiographic image of the same patient's pelvis is presented for comparison...
  45. Lee J, Chiu Y, Kuo Y, Chen H, Hwang S. Nail-patella syndrome with renal involvement and antecubital pterygia. J Formos Med Assoc. 2002;101:655-60 pubmed
    ..Both daughters also had the characteristic features of NPS. During follow-up 30 months after the initial examination, the patient had stable renal function and mild proteinuria...
  46. Granata A, Nori G, Ravazzolo R, Marini M, Castellino S, Sicurezza E, et al. Nail-patella syndrome and renal involvement. Description of three cases and literature review. Clin Nephrol. 2008;69:377-82 pubmed
    ..We report three cases of NPS with different degrees of renal involvement and present a review of the literature on this rare hereditary condition...
  47. Mavrodontidis A, Zalavras C, Papadonikolakis A, Soucacos P. Bilateral absence of the patella in nail-patella syndrome: delayed presentation with anterior knee instability. Arthroscopy. 2004;20:e89-93 pubmed
    ..It should be noted that anterior instability has been described after patellectomy and could be attributed to complete absence of the patella, which is rare in NPS...
  48. Witzgall R. How are podocytes affected in nail-patella syndrome?. Pediatr Nephrol. 2008;23:1017-20 pubmed publisher
    ..LMX1B can serve as a model system to elucidate a genetic program in podocytes...
  49. Sakata S, Opie J, Howard A. Fingertip dermatitis refractory to topical corticosteroids associated with nail-patella syndrome. Australas J Dermatol. 2008;49:55-6 pubmed publisher
    ..We put forward the possibility of chronic paronychia and fingertip dermatitis, refractory to topical corticosteroids, as associations of digital nail-patella syndrome...
  50. Saavedra M, Malcata A. [Nail patella syndrome]. Acta Reumatol Port. 2006;31:357-9 pubmed
  51. Szczałuba K, Obersztyn E, Kozłowski K, Ravazzolo R, Gołabek B, Mazurczak T. [Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene]. Med Wieku Rozwoj. 2005;9:195-203 pubmed
    ..Characteristic clinical features, seen in both patients, are discussed within the context of molecular analysis results...
  52. Hennessey T, Backman S, Meterissian S, Schricker T. Nail-Patella syndrome: a case report and anesthetic implications. Can J Anaesth. 2007;54:835-9 pubmed
    ..To report a case of asystole during combined epidural and general anesthesia occurring in a patient with Nail-Patella syndrome (NPS), and to review the management and anesthetic implications of this rare genetic syndrome...
  53. Kamath S, Bhagwandas K. Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. Pediatr Dermatol. 2010;27:95-7 pubmed publisher
    ..She is under regular surveillance by a multi-disciplinary team of genetic counselors, orthopedists, rheumatologists and ophthalmologists. She is currently prescribed enalapril, melatonin and simvastatin...