A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT
A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT
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DOI：
10.1111/j.1468-1331.2008.02104.x
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发表时间：
2008-06-01
影响因子：
5.1
通讯作者：
Seeman, P.
中科院分区：
文献类型：
--
作者：
Barankova, L.;Siskova, D.;Seeman, P.
背景：外周蛋白（PRX）基因突变导致常染色体隐性脱髓鞘性神经病Charcot-Marie-Tooth（CMT）4F型。迄今为止，在早发性神经病和进一步病程与Dejerine-Sottas神经病或缓慢进行性脱髓鞘CMT一致的患者中报告了10种无义或移码PRX突变。研究方法：我们对来自55个捷克家庭的59名患者进行了测序，其中包括4名不相关的罗姆人（吉普赛人）起源的早发CMT患者，这些患者显示神经传导速度降低。结果：我们发现了一个新的纯合突变c。3286_3356del71（K1095 fsX 18），1例罗姆患者显示疾病进展非常缓慢。在非罗姆捷克CMT患者中，PRX突变已被证明是非常罕见的。
Background: Mutations in the periaxin (PRX) gene cause autosomal recessive demyelinating neuropathy Charcot-Marie-Tooth (CMT) type 4F. To date, 10 nonsense or frameshift PRX mutations have been reported in patients with early-onset neuropathy and further disease course consistent with either Dejerine - Sottas neuropathy or slow-progressive demyelinating CMT. Methods: We sequenced 59 patients from 55 Czech families including four unrelated patients of Romani (Gypsy) origin with early-onset CMT displaying decreased nerve conduction velocities. Results: We identified a novel homozygous mutation c. 3286_3356del71 (K1095fsX18) in one Romani patient showing very slow disease progression. Amongst non-Romani Czech CMT patients, PRX mutations have been proven to be very rare.