Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium.
Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9.
Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.
遗传性周围神经病是常见的神经肌肉疾病，以其临床和遗传异质性为特征。我们通过将连锁分析与下一代测序相结合，并对受影响个体进行随后的队列筛查，在 33 个家族中发现了 HINT1（编码组氨酸三联核苷酸结合蛋白 1）中的 8 个突变。我们的研究提供了证据，表明功能性 HINT1 蛋白的缺失导致常染色体隐性轴索性神经病伴肌强直的独特表型。
