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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) Photograph showing the patient's sclerocornea and pthysis bulbi. (b) showing dystrophic thumb nail.
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SFT035F1: (a) Photograph showing the patient's sclerocornea and pthysis bulbi. (b) showing dystrophic thumb nail.

Mentions: Physical examination revealed pallor, bilateral pedal oedema and systemic hypertension. Ophthalmological examination showed sclerocornea of both eyes with spontaneous nystagmus and bilateral pthysis bulbi (Figure 1a). He had antecubital pterygium, bilateral small and dislocated patellae, and nail dysplasia comprising of longitudinal ridging and splitting of the thumbnails (Figure 1b). Systemic examination was unremarkable.Fig. 1.


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) Photograph showing the patient's sclerocornea and pthysis bulbi. (b) showing dystrophic thumb nail.
© Copyright Policy - creative-commons
Related In: Results  -  Collection

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

SFT035F1: (a) Photograph showing the patient's sclerocornea and pthysis bulbi. (b) showing dystrophic thumb nail.
Mentions: Physical examination revealed pallor, bilateral pedal oedema and systemic hypertension. Ophthalmological examination showed sclerocornea of both eyes with spontaneous nystagmus and bilateral pthysis bulbi (Figure 1a). He had antecubital pterygium, bilateral small and dislocated patellae, and nail dysplasia comprising of longitudinal ridging and splitting of the thumbnails (Figure 1b). Systemic examination was unremarkable.Fig. 1.

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