CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.

doi:10.1136/jmedgenet-2019-106474

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Article

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.

Journal of medical genetics - 1 Jun 2020

Nasser Hala, Vera Liza, Elmaleh-Bergès Monique, Steindl Katharina, Letard Pascaline, Teissier Natacha, Ernault Anais, Guimiot Fabien, Afenjar Alexandra, Moutard Marie Laure, Héron Delphine, Alembik Yves, Momtchilova Martha, Milani Paolo, Kubis Nathalie, Pouvreau Nathalie, Zollino Marcella, Guilmin Crepon Sophie, Kaguelidou Florentia, Gressens Pierre, Verloes Alain, Rauch Anita, El Ghouzzi Vincent, Drunat Severine, Passemard Sandrine

Abstract excerpt

BACKGROUND: Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. Despite the identification of >25 causal genes so far, it remains a challenge to distinguish between different MCPH forms at the clinical level. METHODS: 7 patients with newly identified mutations in CDK5RAP2...

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PMID: 32015000
DOI: 10.1136/jmedgenet-2019-106474

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