whole exome sequencing reveals compound heterozygosity for ethnically distinct pex7 mutations responsible for rhizomelic chondrodysplasia punctata, type 1
Clicks: 157
ID: 240537
2015
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.
Reader Engagement
Steady Performance
30.0
/100
157 views
25 readers
AI Quality Assessment
Not analyzed
Readership in this journal
SteadyRanked #20 of 32 articles by views in journal of food processing and preservation
Most read
Least read
Bar heights use a square-root scale.
Mint this article as an NFT
Not yet mintedCreate 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
Abstract
We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocular phenotypes. Case 1 died at 19 years of age due to chronic respiratory illnesses without a unifying diagnosis. The brother remains alive but severely disabled at 19 years of age. Whole exome sequencing identified compound heterozygous stop mutations in the peroxisome biogenesis factor 7 gene in both individuals. Mutations in this gene cause rhizomelic chondrodysplasia punctata, type 1 (RCDP1). One mutation, p.Arg232∗, has only been documented once before in a Japanese family, which is of interest given these two boys are of European descent. The other mutation, p.Leu292∗, is found in approximately 50% of RCDP1 patients. These are the first cases of RCDP1 that describe the coinheritance of the p.Arg232∗ and p.Leu292∗ mutations and demonstrate the utility of WES in cases with unclear diagnoses.
| Reference Key |
jacobsen2015casewhole
Use this key to autocite in the manuscript while using
SciMatic Manuscript Manager or Thesis Manager
|
|---|---|
| Authors | ;Jessie C. Jacobsen;Emma Glamuzina;Juliet Taylor;Brendan Swan;Shona Handisides;Callum Wilson;Michael Fietz;Tessa van Dijk;Bart Appelhof;Rosamund Hill;Rosemary Marks;Donald R. Love;Stephen P. Robertson;Russell G. Snell;Klaus Lehnert |
| Journal | journal of food processing and preservation |
| Year | 2015 |
| DOI |
10.1155/2015/454526
|
| URL | |
| Keywords |
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.