Muglia Maria, Patitucci Alessandra, Rizzi Romana, Ungaro Carmine, Conforti Francesca Luisa, Gabriele Anna Lia, Magariello Angela, Mazzei Rosalucia, Motti Luisa, Sabadini Rossella, Sprovieri Teresa, Marcello Norina, Quattrone Aldo
Institute of Neurological Sciences, National Research Council, Mangone (Cosenza), Italy.
J Neurol Sci. 2007 Dec 15;263(1-2):194-7. doi: 10.1016/j.jns.2007.05.034. Epub 2007 Aug 20.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent sensory or motor dysfunction. In 85% of HNPP cases the genetic defect is a 1.4 Mb deletion on chromosome 17p11.2, encompassing the PMP22 gene. Point mutations in the PMP22 gene responsible for HNPP phenotypes are rare. We investigated a 17-years-old girl who led to our detecting a novel mutation in PMP22 gene. The mutation was also detected in her father and corresponded to a deletion of one tymidine at position 11 in exon2 (c.11delT). This novel mutation creates a shift on the reading frame starting at codon 4 and leads to the introduction of a premature stop at codon 6.
遗传性压力易感性周围神经病（HNPP）是一种常染色体显性遗传性疾病，其特征为反复出现感觉或运动功能障碍。在85%的HNPP病例中，基因缺陷是17号染色体p11.2处的1.4 Mb缺失，其中包含PMP22基因。导致HNPP表型的PMP22基因点突变较为罕见。我们对一名17岁女孩进行了研究，由此检测到PMP22基因中的一种新突变。该突变在她父亲身上也被检测到，对应于外显子2第11位的一个胸腺嘧啶缺失（c.11delT）。这种新突变导致从第4密码子开始的阅读框移位，并导致在第6密码子处引入提前终止密码子。
