The role of HCFC1 in syndromic and non-syndromic intellectual disability.
The role of HCFC1 in syndromic and non-syndromic intellectual disability.
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HCFC1在综合症和非综合智力障碍中的作用。
DOI：
10.18103/mra.v8i6.2122
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发表时间：
2020-06
期刊：
影响因子：
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通讯作者：
Quintana AM
中科院分区：
文献类型：
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作者：
Castro VL;Quintana AM
HCFC1基因突变与综合征性(CblX)和非综合征性智力残疾有关。综合征患者存在严重的神经缺陷，包括顽固性癫痫、面部变形和智力残疾。非综合征个体也已被描述，并暗示了HCFC1在脑发育中的作用。表型的外显性和整个综合征的存在与HCFC1蛋白内突变的位置有关。因此，人们可以假设，HCFC1突变的位置导致不同的神经表型，包括但不限于智力残疾。HCFC1蛋白由多个结构域组成，这些结构域在细胞增殖/代谢中发挥作用。已经确定了几个关于HCFC1疾病变异的报告，但尚未汇编对每个变异及其相关表型的全面审查。在这里，我们对HCFC1的功能、模型系统、变异位置和伴随的表型进行详细的回顾，以突出该领域的当前知识和未来状况。
Mutations in the HCFC1 gene are associated with cases of syndromic (cblX) and non-syndromic intellectual disability. Syndromic individuals present with severe neurological defects including intractable epilepsy, facial dysmorphia, and intellectual disability. Non-syndromic individuals have also been described and implicate a role for HCFC1 during brain development. The penetrance of phenotypes and the presence of an overall syndrome is associated with the location of the mutation within the HCFC1 protein. Thus, one could hypothesize that the positioning of HCFC1 mutations lead to different neurological phenotypes that include but are not restricted to intellectual disability. The HCFC1 protein is comprised of multiple domains that function in cellular proliferation/metabolism. Several reports of HCFC1 disease variants have been identified, but a comprehensive review of each variant and its associated phenotypes has not yet been compiled. Here we perform a detailed review of HCFC1 function, model systems, variant location, and accompanying phenotypes to highlight current knowledge and the future status of the field.