The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot

Huifang Yan^{1

2}, Thomas Kubisiak², Haoran Ji¹, Jiangxi Xiao³, Jingmin Wang¹, Margit Burmeister^{2

4}

Affiliations

¹ Department of Pediatrics, Peking University First Hospital, Beijing, China.
² Molecular and Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.
³ Department of Radiology, Peking University First Hospital, Beijing, China.
⁴ Departments of Computational Medicine and Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, MI, USA.

Comment

Huifang Yan et al. Brain. 2018.

. 2018 May 1;141(5):e36.

doi: 10.1093/brain/awy029.

Huifang Yan^{1

2}, Thomas Kubisiak², Haoran Ji¹, Jiangxi Xiao³, Jingmin Wang¹, Margit Burmeister^{2

4}

¹ Department of Pediatrics, Peking University First Hospital, Beijing, China.
² Molecular and Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.
³ Department of Radiology, Peking University First Hospital, Beijing, China.
⁴ Departments of Computational Medicine and Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, MI, USA.

No abstract available

Comment in

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
Simons C, Dyment D, van der Knaap MS, Wolf NI. Simons C, et al. Brain. 2018 May 1;141(5):e37. doi: 10.1093/brain/awy030. Brain. 2018. PMID: 29444246 No abstract available.

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
Simons C, Dyment D, Bent SJ, Crawford J, D'Hooghe M, Kohlschütter A, Venkateswaran S, Helman G, Poll-The BT, Makowski CC, Ito Y, Kernohan K, Hartley T, Waisfisz Q, Taft RJ; Care4Rare Consortium; van der Knaap MS, Wolf NI. Simons C, et al. Brain. 2017 Dec 1;140(12):3105-3111. doi: 10.1093/brain/awx314. Brain. 2017. PMID: 29186371 Free PMC article.