Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)
Sign Up to like & getrecommendations! Published in 2018 at "Metabolic Brain Disease"
DOI: 10.1007/s11011-018-0200-z
Abstract: The UNC80 gene encodes for a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. In this study, we report on a novel homozygous mutation in UNC80… read more here.
Keywords: novel homozygous; hypotonia psychomotor; infantile hypotonia; characteristic facies ... See more keywords
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.08.004
Abstract: Deleterious homozygous or compound heterozygous mutations in the TBCK (TBC1-domain-containing kinase) gene (implicated in the MTOR pathway) produce profound hypotonia, global developmental delay, facial dysmorphic features, and brain abnormalities. The disorder has been named "infantile… read more here.
Keywords: hypotonia; hypotonia psychomotor; infantile hypotonia; characteristic facies ... See more keywords