1. A new mutation associated with Pierson syndrome.
- Author
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Kulali F, Calkavur S, Basaran C, Serdaroglu E, Kose M, and Saka Guvenc M
- Subjects
- Female, Genetic Markers, Homozygote, Humans, Infant, Mutation, Myasthenic Syndromes, Congenital genetics, Nephrotic Syndrome genetics, Phenotype, Pupil Disorders genetics, Laminin genetics, Myasthenic Syndromes, Congenital diagnosis, Nephrotic Syndrome diagnosis, Pupil Disorders diagnosis
- Abstract
Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin β2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. There are no specific therapies for Pierson syndrome and treatment is supportive. The prognosis is poor because of progressive impairment of renal function and complications of renal failure. We report a novel homozygous mutation (c.1890G>T, p.Q630H) in the LAMB2 gene in a patient with Pierson syndrome who had atypical phenotypic feature such as epidermolysis bullosa., Competing Interests: None, (Sociedad Argentina de Pediatría.)
- Published
- 2020
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