De novoARHGEF9missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum ofARHGEF9disease in females

Marcello Scala*, Evelien Zonneveld-Huijssoon, Marianna Brienza, Oriano Mecarelli, Annemarie H. van der Hout, Elena Zambrelli, Katherine Turner, Federico Zara, Angela Peron, Aglaia Vignoli, Pasquale Striano

*Bijbehorende auteur voor dit werk

    OnderzoeksoutputAcademicpeer review

    4 Citaten (Scopus)
    42 Downloads (Pure)


    Individuals harboring pathogenic variants inARHGEF9, encoding an essential submembrane protein for gamma-aminobutyric acid (GABA)-ergic synapses named collybistin, show intellectual disability (ID), facial dysmorphism, behavioral disorders, and epilepsy. Only few affected females carrying large chromosomal rearrangements involvingARHGEF9have been reported so far. Through next-generation sequencing (NGS)-based panels, we identified two single nucleotide variants (SNVs) inARHGEF9in two females with neurodevelopmental features. Sanger sequencing revealed that these variants were de novo. The X-inactivation pattern in peripheral blood cells was random. We report the first affected females harboring de novo SNVs inARHGEF9, expanding the genotypic and phenotypic spectrum ofARHGEF9-related neurodevelopmental disorder in females.

    Originele taal-2English
    Pagina's (van-tot)87-94
    Aantal pagina's8
    Vroegere onlinedatum17-sep-2020
    StatusPublished - mrt-2021

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