Article
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
American journal of human genetics - 7 Jun 2018
Wang Chih-Chuan, Ortiz-González Xilma R, Yum Sabrina W, Gill Sara M, White Amy, Kelter Erin, Seaver Laurie H, Lee Sansan, Wiley Graham, Gaffney Patrick M, Wierenga Klaas J, Rasband Matthew N
Abstract excerpt
βIV spectrin links ankyrinG (AnkG) and clustered ion channels at axon initial segments (AISs) and nodes of Ranvier to the axonal cytoskeleton. Here, we report bi-allelic pathogenic SPTBN4 variants (three homozygous and two compound heterozygous) that cause a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy. We introduced these...
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