Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described.
نویسندگان
چکیده
Correspondence: Naira Álvarez Martín Sección de Nefrología Pediátrica. Servicio de Pediatría. Hospital Nuestra Señora de la Candelaria. Ctra. General del Rosario s/n. 38010 Santa Cruz de Tenerife. (Spain) [email protected] [email protected] Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described Naira Álvarez-Martín, María J. Gamundi, Imma Hernan, Miguel Carballo, M. Isabel Luis-Yanes, Víctor García-Nieto
منابع مشابه
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation
BACKGROUND Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy. We herein report a case of steroid-resistant nephrotic syndrome (SRNS) prior to overt orthopedic symptoms in a patient with NPS. CASE PRESENTATION A 24-year-old woman presented to our hospital with knee ...
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Suppl. 1 – S38 moderate length-dependent polyneuropathy of axonal type. Detailed blood screening studies were negative. Genetic testing revealed the diagnosis of nail-patella syndrome with LMX1B gene mutation on chromosome 9q34. The lack of an identifiable acquired cause and the symmetric, slowly progressive and “painless” nature of the patient’s peripheral neuropathy point toward an inherited ...
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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 replac...
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The gene responsible for nail-patella syndrome, LMX1B, has recently been identified on chromosome 9q. Here we present a patient with nail-patella syndrome and an autosomal dominant pattern of inheritance. A 17-year-old girl visited our clinic for the evaluation and treatment of proteinuria. She had dystrophic nails, palpable iliac horns, and hypoplastic patellae. Electron microscopy of a renal ...
متن کاملCorrection: A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation
Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy and glaucoma. It is thought to be a haploinsufficient disorder. Studies in the mouse have shown that during development Lmx1b controls limb do...
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عنوان ژورنال:
- Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia
دوره 33 4 شماره
صفحات -
تاریخ انتشار 2013