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Nail-patella syndrome-a novel mutation in the LMX1B gene.

Nair RR, Unni VN, Indu KN, Nampoothiri S, Mathew A, Kurian G, Vimala A - Clin Kidney J (2013)

Bottom Line: Nail-patella syndrome (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, skeletal anomalies and frequently renal disease.A missense mutation at codon 725 was identified, where thymine was replaced by cytosine which led to the replacement of valine by alanine at position 242.It was not detected in both parents.

View Article: PubMed Central - PubMed

Affiliation: Department of Nephrology , Amrita School of Medicine, Kochi, India.

ABSTRACT
Nail-patella syndrome (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, skeletal anomalies and frequently renal disease. In the reported case, genetic analysis revealed a new missense mutation in the homeodomain of LMX1B, presumed to abolish DNA binding (c.725T>C, p.Val242Ala). A missense mutation at codon 725 was identified, where thymine was replaced by cytosine which led to the replacement of valine by alanine at position 242. It was not detected in both parents. A 2005 study by Bongers et al. described a significant association between the presence of clinically relevant renal involvement in an NPS patient and a positive family history of nephropathy, which was lacking in our case.

No MeSH data available.


Related in: MedlinePlus

(a) Electron microscopy image shows many electron-lucent areas in the thickened GBM that assumes a ‘moth-eaten’ appearance (*), irregular effacement of foot processes. Uranyl acetate and lead citrate, ×8500 (Courtesy of Marie-Claire Gubler, Hôpital Necker and INSERM U983 Paris, France). (b) Electron microscopy image after phosphotungstic acid staining, detection of dark fibrillar material (arrows) within the GBM, × 8000 (Courtesy of Marie-Claire Gubler, Hôpital Necker and INSERM U983 Paris, France).
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SFT035F4: (a) Electron microscopy image shows many electron-lucent areas in the thickened GBM that assumes a ‘moth-eaten’ appearance (*), irregular effacement of foot processes. Uranyl acetate and lead citrate, ×8500 (Courtesy of Marie-Claire Gubler, Hôpital Necker and INSERM U983 Paris, France). (b) Electron microscopy image after phosphotungstic acid staining, detection of dark fibrillar material (arrows) within the GBM, × 8000 (Courtesy of Marie-Claire Gubler, Hôpital Necker and INSERM U983 Paris, France).

Mentions: Remarkable phenotypic variability at the individual, intrafamilial and interfamilial level was observed for different NPS manifestations [9]. Renal involvement determines the prognosis. The symptoms range from proteinuria and hematuria to features of chronic renal failure. Ultrastructurally, the thickened GBM has a moth-eaten appearance, the cause of which is the presence of electron-lucent areas containing fibrillar deposits resembling fibrillar collagen (Figure 4).Fig. 4.


Nail-patella syndrome-a novel mutation in the LMX1B gene.

Nair RR, Unni VN, Indu KN, Nampoothiri S, Mathew A, Kurian G, Vimala A - Clin Kidney J (2013)

(a) Electron microscopy image shows many electron-lucent areas in the thickened GBM that assumes a ‘moth-eaten’ appearance (*), irregular effacement of foot processes. Uranyl acetate and lead citrate, ×8500 (Courtesy of Marie-Claire Gubler, Hôpital Necker and INSERM U983 Paris, France). (b) Electron microscopy image after phosphotungstic acid staining, detection of dark fibrillar material (arrows) within the GBM, × 8000 (Courtesy of Marie-Claire Gubler, Hôpital Necker and INSERM U983 Paris, France).
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4400480&req=5

SFT035F4: (a) Electron microscopy image shows many electron-lucent areas in the thickened GBM that assumes a ‘moth-eaten’ appearance (*), irregular effacement of foot processes. Uranyl acetate and lead citrate, ×8500 (Courtesy of Marie-Claire Gubler, Hôpital Necker and INSERM U983 Paris, France). (b) Electron microscopy image after phosphotungstic acid staining, detection of dark fibrillar material (arrows) within the GBM, × 8000 (Courtesy of Marie-Claire Gubler, Hôpital Necker and INSERM U983 Paris, France).
Mentions: Remarkable phenotypic variability at the individual, intrafamilial and interfamilial level was observed for different NPS manifestations [9]. Renal involvement determines the prognosis. The symptoms range from proteinuria and hematuria to features of chronic renal failure. Ultrastructurally, the thickened GBM has a moth-eaten appearance, the cause of which is the presence of electron-lucent areas containing fibrillar deposits resembling fibrillar collagen (Figure 4).Fig. 4.

Bottom Line: Nail-patella syndrome (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, skeletal anomalies and frequently renal disease.A missense mutation at codon 725 was identified, where thymine was replaced by cytosine which led to the replacement of valine by alanine at position 242.It was not detected in both parents.

View Article: PubMed Central - PubMed

Affiliation: Department of Nephrology , Amrita School of Medicine, Kochi, India.

ABSTRACT
Nail-patella syndrome (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, skeletal anomalies and frequently renal disease. In the reported case, genetic analysis revealed a new missense mutation in the homeodomain of LMX1B, presumed to abolish DNA binding (c.725T>C, p.Val242Ala). A missense mutation at codon 725 was identified, where thymine was replaced by cytosine which led to the replacement of valine by alanine at position 242. It was not detected in both parents. A 2005 study by Bongers et al. described a significant association between the presence of clinically relevant renal involvement in an NPS patient and a positive family history of nephropathy, which was lacking in our case.

No MeSH data available.


Related in: MedlinePlus