Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

doi:10.1111/cge.13755

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Article

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Clinical genetics - 1 Jul 2020

Carmignac Virginie, Nambot Sophie, Lehalle Daphné, Callier Patrick, Moortgat Stephanie, Benoit Valérie, Ghoumid Jamal, Delobel Bruno, Smol Thomas, Thuillier Caroline, Zordan Cécile, Naudion Sophie, Bienvenu Thierry, Touraine Renaud, Ramond Francis, Zweier Christiane, Reis André, Kraus Cornelia, Nizon Mathilde, Cogné Benjamin, Verloes Alain, Tran Mau-Them Frédéric, Sorlin Arthur, Jouan Thibaud, Duffourd Yannis, Tisserant Emilie, Philippe Christophe, Vitobello Antonio, Thevenon Julien, Faivre Laurence, Thauvin-Robinet Christel

Abstract excerpt

X-linked intellectual disability (XLID) is a genetically heterogeneous condition involving more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine specific demethylase 5C (KDM5C) gene. KDM5C variants are one of the major causes of moderate to severe XLID. Affected males present with short stature, distinctive facial features, behavioral disorders, epilepsy, and spasticity. For most...

Topics

Adult
Child, Preschool
Epilepsy
Female
Genes, X-Linked
Genetic Variation
Heterozygote
Histone Demethylases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Intellectual Disability

Male

X-Linked Intellectual Disability

Phenotype

Young Adult

Source

Open in PubMed

Identifiers

PMID: 32279304
DOI: 10.1111/cge.13755

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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