individual clinically diagnosed with charge syndrome but with a mutation in kmt2d, a gene associated with kabuki syndrome: a case report

Clicks: 3
ID: 221012
2017
Free PDF
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal
Emerging

Ranked #264 of 264 articles by views in chemical record (new york, ny)

Most read Least read

Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 264 in total.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
Sign in to mint
Abstract
We report a Japanese female patient presenting with classic features of CHARGE syndrome, including choanal atresia, growth and development retardation, ear malformations, genital anomalies, multiple endocrine deficiency, and unilateral facial nerve palsy. She was clinically diagnosed with typical CHARGE syndrome, but genetic analysis using the TruSight One Sequence Panel revealed a germline heterozygous mutation in KMT2D with no pathogenic CHD7 alterations associated with CHARGE syndrome. Kabuki syndrome is a rare multisystem disorder characterized by five cardinal manifestations including typical facial features, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate intellectual disability, and postnatal growth deficiency. Germline mutations in KMT2D underlie the molecular pathogenesis of 52–76% of patients with Kabuki syndrome. This is an instructive case that clearly represents a phenotypic overlap between Kabuki syndrome and CHARGE syndrome. It suggests the importance of considering the possibility of a diagnosis of Kabuki syndrome even if patients present with typical symptoms and meet diagnostic criteria of CHARGE syndrome. The case also emphasizes the impact of non-biased exhaustive genetic analysis by next-generation sequencing in the genetic diagnosis of rare congenital disorders with atypical manifestations.
Reference Key
sakata2017frontiersindividual Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Sonoko Sakata;Satoshi Okada;Kohei Aoyama;Keiichi Hara;Chihiro Tani;Reiko Kagawa;Akari Utsunomiya-Nakamura;Shinichiro Miyagawa;Shinichiro Miyagawa;Tsutomu Ogata;Haruo Mizuno;Haruo Mizuno;Masao Kobayashi
Journal chemical record (new york, ny)
Year 2017
DOI
10.3389/fgene.2017.00210
URL
http://journal.frontiersin.org/article/10.3389/fgene.2017.00210/full
Keywords Keywords not found

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

Comments

No comments yet. Be the first to comment on this article.