由POLR3A突变引起的伴有迟发性生长激素缺乏的4H综合征。
4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.
作者信息
Potic Ana, Brais Bernard, Choquet Karine, Schiffmann Raphael, Bernard Geneviève
机构信息
Clinic for Child Neurology and Psychiatry, Department of Child Neurology, University of Belgrade, Serbia.
出版信息
Arch Neurol. 2012 Jul;69(7):920-3. doi: 10.1001/archneurol.2011.1963.
OBJECTIVE
To report a novel clinical and genetic presentation of a patient with 4H syndrome, which is a recently described leukodystrophy syndrome characterized by ataxia, hypomyelination, hypodontia, and hypogonadotropic hypogonadism.
DESIGN
Case report.
SETTING
University teaching hospital.
PATIENT
A 20-year-old male patient with 4H syndrome.
RESULTS
The patient was found to have delayed tooth eruption and a late-onset growth hormone deficiency without overt growth failure. He was a compound heterozygote for the novel missense mutations R1005H and A1331T of POLR3A, which codes for the largest subunit of RNA polymerase III.
CONCLUSION
This is the first report of this type of leukodystrophy from southeastern Europe, which suggests that POLR3A mutations should be suspected in patients with hypomyelination and various central nervous system–based endocrine abnormalities.
目的
报告一名患有4H综合征患者的一种新的临床和基因表现，4H综合征是一种最近描述的脑白质营养不良综合征，其特征为共济失调、髓鞘形成减少、牙发育不全和低促性腺激素性性腺功能减退。
设计
病例报告。
地点
大学教学医院。
患者
一名患有4H综合征的20岁男性患者。
结果
该患者被发现出牙延迟且生长激素缺乏起病较晚，但无明显生长发育迟缓。他是编码RNA聚合酶III最大亚基的POLR3A基因新错义突变R1005H和A1331T的复合杂合子。
结论
这是来自东南欧的此类脑白质营养不良的首例报告，提示对于有髓鞘形成减少和各种基于中枢神经系统的内分泌异常的患者应怀疑POLR3A基因突变。
Zotero 插件