Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families
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DOI：
10.1055/s-0039-1684008
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发表时间：
2019-06-01
影响因子：
0.4
通讯作者：
Konovalov, Fedor A.
中科院分区：
文献类型：
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作者：
Rudenskaya, Galina E.;Marakhonov, Andrey, V;Konovalov, Fedor A.
共济失调伴动眼神经失用症 4 型 (AOA4) 是一种罕见的常染色体隐性遗传、PNKP 相关疾病，于 2015 年在葡萄牙发现。我们通过下一代测序 (NGS) 诊断 AOA4，随后对来自两个不相关的白俄罗斯家庭的三个男孩进行桑格测序。在这两个家族中，杂合 PNKP 突变之一是 c.1123G>T，常见于葡萄牙患者；双等位基因突变 c.1270_1283dup14 和 c.1029+2T>C 分别是新的。这是首例报道的 AOA4 斯拉夫病例，也是葡萄牙境外首例出现“葡萄牙”PNKP 突变的病例。两兄弟的区别是小头畸形，但与 PNKP 相关的“小头畸形、癫痫发作和发育迟缓”相比，他们的疾病并不严重，并且报告的病例具有两种表型的特征。
Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP-related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation sequencing (NGS) followed by Sanger's sequencing in three boys from two unrelated Belarusian families. In both families, one of the heterozygous PNKP mutations was c.1123G>T, common in Portuguese patients; biallelic mutations, c.1270_1283dup14 and c.1029+2T>C, respectively, were novel. These are the first reported AOA4 Slavic cases and the first with a "Portuguese" PNKP mutation outside Portugal. Distinction in two brothers was microcephaly but their disease was not severe in contrast to PNKP-related "microcephaly, seizures, and developmental delay" and reported cases with features of both phenotypes.