Article
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
American journal of human genetics - 5 May 2022
Coolen Marion, Altin Nami, Rajamani Karthyayani, Pereira Eva, Siquier-Pernet Karine, Puig Lombardi Emilia, Moreno Nadjeda, Barcia Giulia, Yvert Marianne, Laquerrière Annie, Pouliet Aurore, Nitschké Patrick, Boddaert Nathalie, Rausell Antonio, Razavi Féréchté, Afenjar Alexandra, Billette de Villemeur Thierry, Al-Maawali Almundher, Al-Thihli Khalid, Baptista Julia, Beleza-Meireles Ana, Garel Catherine, Legendre Marine, Gelot Antoinette, Burglen Lydie, Moutton Sébastien, Cantagrel Vincent
Abstract excerpt
Pontocerebellar hypoplasias (PCHs) are congenital disorders characterized by hypoplasia or early atrophy of the cerebellum and brainstem, leading to a very limited motor and cognitive development. Although over 20 genes have been shown to be mutated in PCHs, a large proportion of affected individuals remains undiagnosed. We describe four families with children presenting with severe neonatal brainstem dysfunction...
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