期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 164, 期 7, 页码 1802-1807出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36526
关键词
hypomyelination with atrophy of the basal ganglia and cerebellum; TUBB4A; tubulin beta 4
资金
- Intramural NIH HHS [Z99 HG999999] Funding Source: Medline
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) has recently been associated with a single heterozygous p.D249N mutation in TUBB4A. We describe two novel mutations in this gene. A p.C239F mutation was found in one of the originally described H-ABC patients, for whom we provide follow-up 11 years after the original publication. The second novel mutation, p.R262H, was found in a patient with a typical clinical presentation for H-ABC, but with a novel neuroimaging phenotype, given the absence of atrophy of the putamen and caudate nucleus despite 7 years of follow-up. The recent recognition of TUBB4A mutations as the underlying etiology of H-ABC will likely lead to the identification of subtler clinical and neuroimaging presentations of this disorder, like in our third patient. Thus mutations in this gene should be suspected in any patient with hypomyelination, regardless of the long-term presence of neostriatal atrophy. (c) 2014 Wiley Periodicals, Inc.
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