Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.

ABSTRACT: De novo sequence variants, including truncating and splicing variants, in the additional sex‑combs like 3 gene (ASXL3) have been described as the cause of Bainbridge‑Ropers syndrome (BRS). This pathology is characterized by delayed psychomotor development, severe intellectual disability, growth delay, hypotonia and facial dimorphism. The present study reports a case of a girl (born in 2013) with severe global developmental delay, central hypotonia, microcephaly and poor speech. The proband was examined using a multi‑step molecular diagnostics algorithm, including karyotype and array‑comparative genomic hybridization analysis, with negative results. Therefore, the proband and her unaffected parents were enrolled for a pilot study using targeted next‑generation sequencing technology (NGS) wi

SUBMITTER: Wayhelova M 

PROVIDER: S-EPMC6579994 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature