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Article

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

Human genetics - 1 Jan 2006

Hagens Olivier, Dubos Aline, Abidi Fatima, Barbi Gotthold, Van Zutven Laura, Hoeltzenbein Maria, Tommerup Niels, Moraine Claude, Fryns Jean-Pierre, Chelly Jamel, van Bokhoven Hans, Gécz Jozef, Dollfus Hélène, Ropers Hans-Hilger, Schwartz Charles E, de Cassia Stocco Dos Santos Rita, Kalscheuer Vera, Hanauer André

Abstract excerpt

The extensive heterogeneity underlying the genetic component of mental retardation (MR) is the main cause for our limited understanding of the aetiology of this highly prevalent condition. Hence we set out to identify genes involved in MR. We investigated the breakpoints of two balanced X;autosome translocations in two unrelated female patients with mild/moderate MR and found that the Xp11.2 breakpoints disrupt...

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Share to Chromosomes, Human, X
Share to Cloning, Molecular

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutagenesis

Share to Sequence Homology, Amino Acid

Share to Sequence Homology, Nucleic Acid

Share to Subcellular Fractions

Share to Translocation, Genetic

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 16249884
DOI: 10.1007/s00439-005-0072-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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