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Article

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

American journal of medical genetics. Part A - 1 Feb 2009

Sartori Stefano, Di Rosa Gabriella, Polli Roberta, Bettella Elisa, Tricomi Giovanni, Tortorella Gaetano, Murgia Alessandra

Abstract excerpt

Mutations of the cyclin-dependent kinase-like 5 gene (CDKL5), reported almost exclusively in female subjects, have been recently found to be the cause of a phenotype overlapping Rett syndrome with early-onset epileptic encephalopathy. We describe the first CDKL5 mutation detected in a male individual with 47,XXY karyotype. This previously unreported, de novo, mutation truncates the large CDKL5 COOH-terminal...

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Source

Identifiers

PMID: 19161156
DOI: 10.1002/ajmg.a.32606

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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