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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) X-ray of knees showing bilateral dislocated patellae. (b) X-ray showing ankylosis of elbow joint.
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SFT035F2: (a) X-ray of knees showing bilateral dislocated patellae. (b) X-ray showing ankylosis of elbow joint.

Mentions: Biochemical investigations and ultrasonogram of kidneys confirmed chronic kidney disease (Stage 5). Radiography of the knee and elbows joints revealed hypoplastic and dislocated patellae (Figure 2a) and ankylosis of elbow joints (Figure 2b). No iliac horns were observed.Fig. 2.


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) X-ray of knees showing bilateral dislocated patellae. (b) X-ray showing ankylosis of elbow joint.
© Copyright Policy - creative-commons
Related In: Results  -  Collection

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

SFT035F2: (a) X-ray of knees showing bilateral dislocated patellae. (b) X-ray showing ankylosis of elbow joint.
Mentions: Biochemical investigations and ultrasonogram of kidneys confirmed chronic kidney disease (Stage 5). Radiography of the knee and elbows joints revealed hypoplastic and dislocated patellae (Figure 2a) and ankylosis of elbow joints (Figure 2b). No iliac horns were observed.Fig. 2.

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