A new mutation associated with Pierson syndrome

Ferit Kulali, Sebnem Calkavur, Cemaliye Basaran, Erkin Serdaroglu, Melis Kose, Merve Saka Guvenc
Archivos Argentinos de Pediatría 2020, 118 (3): e288-e291
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.

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