VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report - Université Paris Cité Accéder directement au contenu
Article Dans Une Revue European Journal of Medical Genetics Année : 2019

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

Résumé

Whole exome sequencing undertaken in two siblings with delayed psychomotor development, absent speech, severe intellectual disability and postnatal microcephaly, with brain malformations consisting of cerebellar atrophy in the eldest affected and hypoplastic corpus callosum in the younger sister; revealed a homozygous intragenic deletion in VPS51, which encodes the vacuolar protein sorting-associated protein, one the four subunits of the Golgi-associated retrograde protein (GARP) and endosome-associated recycling protein (EARP) complexes that promotes the fusion of endosome-derived vesicles with the trans-Golgi network (GARP) and recycling endosomes (EARP). This observation supports a pathogenic effect of VPS51 variants, which has only been reported previously once, in a single child with microcephaly. It confirms the key role of membrane trafficking in normal brain development and homeostasis.
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Dates et versions

hal-02859833 , version 1 (08-06-2020)

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Annette Uwineza, Jean-Hubert Caberg, Janvier Hitayezu, Stephane Wenric, Leon Mutesa, et al.. VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report. European Journal of Medical Genetics, 2019, 62 (8), pp.103704. ⟨10.1016/j.ejmg.2019.103704⟩. ⟨hal-02859833⟩
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