Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts
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DOI：
10.1007/s00062-015-0472-1
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发表时间：
2017-06-01
影响因子：
2.8
通讯作者：
Bernard, G.
中科院分区：
文献类型：
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作者：
Jurkiewicz, E.;Dunin-Wasowicz, D.;Bernard, G.
4H脑白质营养不良（髓鞘形成不足、低促性腺激素性性腺功能减退和牙发育不全）的诊断基于临床表现和磁共振成像（MRI）。最近，编码Pol III（RNA聚合酶III）亚基A（POLR 3A）和亚基B（POL 3 B）的基因突变已被鉴定为髓鞘形成不足的遗传原因。我们描述了两个波兰女性同胞5岁和10岁的复合杂合突变POLR3B。他们都有相似的临床症状和MRI表现，表现为4H脑白质营养不良，并伴有多小脑回和白内障。根据我们对无低促性腺激素性性腺功能减退症的幼儿的观察，脑MRI图像对正确早期诊断4H脑白质营养不良是非常必要的。所有的临床和放射学结果当然是有帮助的，但遗传构象总是必要的。
The diagnosis of 4H leukodystrophy (hypomyelination, hypogonadotropic hypogonadism, and hypodontia) is based on clinical findings and magnetic resonance imaging (MRI). Recently, mutations of the genes encoding Pol III (RNA polymerase III) subunit A (POLR3A) and subunit B (POL3B) have been identified as the genetic causes of hypomyelination. We describe two Polish female siblings aged 5 and 10 years with compound heterozygous mutations in POLR3B. They both presented with similar clinical symptoms and MRI findings presenting as 4H leukodystrophy, and the association of polymicrogyria and cataract. According to our observation in young children with the absence of hypogonadotropic hypogonadism, brain MRI pattern is very essential in proper early diagnosis of 4H leukodystrophy. All clinical and radiological results are of course helpful, however genetic conformation is always necessary.