A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate
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DOI：
10.1111/j.1399-0004.2007.00817.x
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发表时间：
2007-07-01
影响因子：
3.5
通讯作者：
Schwartz, C. E.
中科院分区：
文献类型：
--
作者：
Abidi, F. E.;Miano, M. G.;Schwartz, C. E.
最近，两个截短突变的PHF 8（植物同源结构域指蛋白8）基因已被发现导致X连锁精神发育迟滞与唇腭裂（CL/P）。其中一个截短突变是在Siderius-Hamel CL/P综合征的原始家族中发现的，其中三个受影响的个体中只有两个患有CL/P的精神发育迟滞（MR），一个个体患有轻度MR。第二个突变存在于一个有四个受影响的男性的家族中，其中三个患有MR和CL/P，而第四个个体患有轻度MR而没有分裂。在这里，我们报告了一名患有与CL/P相关的MR的男性患者中的一种新型无义突变（p.K177X）。该突变导致截短的PHF 8蛋白缺乏Jumonji样C末端结构域和五个核定位信号。我们的发现进一步支持了PHF 8蛋白可能在认知功能和中线形成中起重要作用的假设。
Recently, two truncating mutations in the PHF8 (plant homeodomain finger protein 8) gene have been found to cause X-linked mental retardation associated with cleft lip/cleft palate (CL/P). One of the truncating mutations was found in the original family with Siderius-Hamel CL/P syndrome where only two of the three affected individuals had mental retardation (MR) with CL/P and one individual had mild MR. The second mutation was present in a family with four affected men, three of whom had MR and CL/P, while the fourth individual had mild MR without clefting. Here, we report a novel nonsense mutation (p.K177X) in a male patient who has MR associated with CL/P. The mutation results in a truncated PHF8 protein lacking the Jumonji-like C terminus domain and five nuclear localization signals. Our finding further supports the hypothesis that the PHF8 protein may play an important role in cognitive function and midline formation.