A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.
A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.
复制标题
SPINK5 中的复合同义突变 c.474G>A 和 p.Arg578X 突变会导致 Netherton 综合征的剪接紊乱和轻度表型。
DOI：
10.1111/exd.13011
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Hashimoto T.
中科院分区：
文献类型：
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作者：
Numata S;Teye K;Krol RP;Okamatsu Y;Hashikawa K;Matsuda M;Fortugno P;Di Zenzo G;Castiglia D;Zambruno G;Hamada T;Hashimoto T.
本文介绍了一项研究，调查同义突变的内瑟顿综合征（NS）在日本男婴。讨论的主题包括观察到的由丝氨酸蛋白酶抑制剂Kazal-5型（SPINK 5）基因突变引起的NS疾病，从基因组DNA研究中检测到的两个突变，以及通过逆转录聚合酶链反应（RT-PCR）从外显子4-9区域获得的患者皮肤RNA检查，以及显示SPINK 5严重突变的研究。
The article presents a study that investigates synonymous mutation in Netherton syndrome (NS) in a Japanese male infant. Topics discussed include NS disorder observed to be caused by mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene, two mutations detected from study of genomic DNA and examination of RNA obtained from the patient skin by Reverse transcriptase polymerase chain reaction (RT-PCR) from exon 4-9 region and study showing severe mutation in SPINK5.