Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

doi:10.1007/s00467-014-3013-2

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Article

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2015

Recker Florian, Zaniew Marcin, Böckenhauer Detlef, Miglietti Nunzia, Bökenkamp Arend, Moczulska Anna, Rogowska-Kalisz Anna, Laube Guido, Said-Conti Valerie, Kasap-Demir Belde, Niemirska Anna, Litwin Mieczysław, Siteń Grzegorz, Chrzanowska Krystyna H, Krajewska-Walasek Małgorzata, Sethi Sidharth K, Tasic Velibor, Anglani Franca, Addis Maria, Wasilewska Anna, Szczepańska Maria, Pawlaczyk Krzysztof, Sikora Przemysław, Ludwig Michael

Abstract excerpt

BACKGROUND: The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disorder, almost always characterized by the triad of congenital cataract, cognitive and behavioral impairment and a proximal tubulopathy. METHODS: Twenty-eight novel patients with suspected Lowe syndrome were studied. RESULTS: All patients carried OCRL gene defects with mutational hot spots at CpG dinucleotides. Mutations...

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PMID: 25480730
DOI: 10.1007/s00467-014-3013-2

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OCRL

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