Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.,Molecular Genetics & Genomic Medicine

当前位置： X-MOL 学术 › Mol. Genet. Genomic Med. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-07-21 , DOI: 10.1002/mgg3.1405
Odelia Chorin ₁ , Naomi Yachelevich ₂ , Khaled Mohamed ₃ , Ilana Moscatelli ₄ , John Pappas ₂ , Kim Henriksen ₃ , Gilad D Evrony _{1,

5}

Affiliation

Over half of children with rare genetic diseases remain undiagnosed despite maximal clinical evaluation and DNA‐based genetic testing. As part of an Undiagnosed Diseases Program applying transcriptome (RNA) sequencing to identify the causes of these unsolved cases, we studied a child with severe infantile osteopetrosis leading to cranial nerve palsies, bone deformities, and bone marrow failure, for whom whole‐genome sequencing was nondiagnostic.

中文翻译：

转录组测序鉴定出CLCN7中的非编码型深度内含子变异体，导致常染色体隐性骨质疏松症。

尽管进行了最大程度的临床评估和基于DNA的基因检测，但仍有一半以上的罕见遗传疾病儿童仍未得到诊断。作为应用转录组（RNA）测序来确定这些未解决病例原因的未诊断疾病计划的一部分，我们研究了一名患有严重婴儿骨质疏松症，导致颅神经麻痹，骨畸形和骨髓衰竭的儿童，为此，全基因组测序无法诊断。

更新日期：2020-07-21

点击分享查看原文

点击收藏

公开下载

阅读更多本刊最新论文本刊介绍/投稿指南11