絞り込み

16643

広告

ノーベル化学賞の吉野さん 理事長務める大阪の研究施設に出勤

ノーベル化学賞に選ばれた吉野彰さんが、受賞決定後初めて、自身が理事長を務める大阪府内のリチウムイオン電池の研究施設に出勤し、研究への変わらぬ意欲を示しました。

  1. [医学] ICU患者への控えめな酸素供給...
  2. 移植不適格な新規診断多発性骨髄腫へのD-...
  3. 移植不適格な新規診断多発性骨髄腫に対して...
  4. 「イクメン企業アワード2019」・「イク...

ニュース一覧

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.

著者 Castelluccio VJ , Vetrini F , Lynnes T , Jones J , Holloway L , Belonis A , Breman AM , Graham BH , Sapp K , Wilson T , Schwartz CE , Pratt VM , Weaver DD
Am J Med Genet A.2019 Sep 12 ; ():.
この記事をPubMed上で見るPubMedで表示
この記事をGoogle翻訳上で見る Google翻訳で開く

スターを付ける スターを付ける     (2view , 0users)

Full Text Sources

Coffin-Lowry syndrome (CLS) is a rare X-linked disorder characterized by moderate to severe intellectual disability, hypotonia, craniofacial features, tapering digits, short stature, and skeletal deformities. Using whole exome sequencing and high-resolution targeted comparative genomic hybridization array analysis, we identified a novel microduplication encompassing exons five through nine of RPS6KA3 in three full brothers. Each brother presented with intellectual disability and clinical and radiographic features consistent with CLS. qRT-PCR analyses performed on mRNA from the peripheral blood of the three siblings revealed a marked reduction of RPS6KA3 levels suggesting a loss-of-function mechanism. PCR analysis of the patients' cDNA detected a band greater than expected for an exon 4-10 amplicon, suggesting this was likely a direct duplication that lies between exons 4 through 10, which was later confirmed by Sanger sequencing. This microduplication is only the third intragenic duplication of RPS6KA3, and the second and smallest reported to date thought to cause CLS. Our study further supports the clinical utility of methods such as next-generation sequencing and high-resolution genomic arrays to detect small intragenic duplications. These methods, coupled with expression studies and cDNA structural analysis have the capacity to confirm the diagnosis of CLS in these rare cases.
PMID: 31512387 [PubMed - as supplied by publisher]
印刷用ページを開く Endnote用テキストダウンロード