Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy
Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy
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DOI：
10.1016/j.nmd.2005.01.012
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发表时间：
2005-05-01
影响因子：
2.8
通讯作者：
Hentati, F
中科院分区：
文献类型：
--
作者：
Amouri, R;Driss, A;Hentati, F
常染色体隐性遗传性包涵体肌病(AR-HIBM)是一种少见的常染色体隐性遗传性包涵体肌病，以成人起病为特征，伴有肢体远端肌肉无力和萎缩，肌肉活检有典型的组织病理学改变。AR hIBM与染色体9p12-13上的UDP-N-乙酰氨基葡萄糖2-差向异构酶/N-乙酰甘露糖氨酸激酶基因突变有关[1]。我们报告了两个没有血缘关系的突尼斯家系，具有AR HIBM的临床和病理特征。此前在中东犹太患者中发现了一个明显的纯合子GNE错义突变M712T，在每个家庭的一个患者中发现了一个新发现的GNE错义突变L379H。我们得出结论，突尼斯的AR HIBM表现出等位基因的遗传异质性。(C)2005 Elsevier B.V.保留所有权利。
Autosomal recessive hereditary inclusion body myopathy (AR-HIBM), with sparing of the quadriceps, is characterized by adult-onset, with weakness and atrophy of distal lower limb muscles, and typical histopathological findings in muscle biopsy. AR hIBM is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene on chromosome 9p12-13 [1]. We report two unrelated Tunisian families with clinical and pathological features of AR HIBM. One distinct homozygous GNE missense mutation, M712T, previously reported in Middle Eastern Jewish patients, and a newly identified one, L379H, were found in one patient from each family. We conclude that AR HIBM in Tunisia shows an allelic genetic heterogeneity. (c) 2005 Elsevier B.V. All rights reserved.