Ontology highlight
ABSTRACT:
SUBMITTER: Simons C
PROVIDER: S-EPMC5841038 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Simons Cas C Dyment David D Bent Stephen J SJ Crawford Joanna J D'Hooghe Marc M Kohlschütter Alfried A Venkateswaran Sunita S Helman Guy G Poll-The Bwee-Tien BT Makowski Christine C CC Ito Yoko Y Kernohan Kristin K Hartley Taila T Waisfisz Quinten Q Taft Ryan J RJ van der Knaap Marjo S MS Wolf Nicole I NI
Brain : a journal of neurology 20171201 12
Hypomyelinating leukodystrophies are a heterogeneous group of disorders with a clinical presentation that often includes early-onset nystagmus, ataxia and spasticity and a wide range of severity. Using next-generation sequencing techniques and GeneMatcher, we identified four unrelated patients with brain hypomyelination, all with the same recurrent dominant mutation, c.754G>A p.(Asp252Asn), in TMEM106B. The mutation was confirmed as de novo in three of the cases, and the mildly affected father o ...[more]