Article
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
Brain : a journal of neurology - 1 Dec 2017
Simons Cas, Dyment David, Bent Stephen J, Crawford Joanna, D'Hooghe Marc, Kohlschütter Alfried, Venkateswaran Sunita, Helman Guy, Poll-The Bwee-Tien, Makowski Christine C, Ito Yoko, Kernohan Kristin, Hartley Taila, Waisfisz Quinten, Taft Ryan J, van der Knaap Marjo S, Wolf Nicole I
Abstract excerpt
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...
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