CMT4A:: Identification of a Hispanic GDAP1 founder mutation
CMT4A:: Identification of a Hispanic GDAP1 founder mutation
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DOI：
10.1002/ana.10505
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发表时间：
2003-03-01
影响因子：
11.2
通讯作者：
Lupski, JR
中科院分区：
文献类型：
--
作者：
Boerkoel, CF;Takashima, H;Lupski, JR
神经节苷脂诱导分化相关蛋白1基因（GDAP 1）突变导致常染色体隐性Charcot-Marie-Tooth病4A型。我们报告了另外四个GDAP 1隐性突变（487 C->T，Q163 X，359 G->A，R120 Q）的家庭; Q163 X发生在三个不相关的西班牙裔家庭中，这些家庭具有相同的单倍型，表明西班牙创始人突变。Q163 X和R120 Q突变均导致脱髓鞘和轴突丢失。患者在出生后的头两年内出现症状，并累及颅神经、感觉神经和肠神经。神经病理学显示大的有髓纤维丢失，洋葱球形成和外髓鞘层的局灶性折叠。
Mutations of the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A. We report four additional families with recessive mutations (487C-->T, Q163X, 359G-->A, R120Q) of GDAP1; Q163X occurred in three unrelated Hispanic families that had the same haplotype suggesting a Spanish founder mutation. Both the Q163X and the R120Q mutation cause demyelination and axonal loss. The patients had symptoms within the first two years of life and involvement of cranial, sensory, and enteric nerves. Neuropathology showed loss of large myelinated fibers, onion bulb formations and focal folding of the outer myelin lamina.