umu.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
Show others and affiliations
2016 (English)In: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 11, no 3, e0150555Article in journal (Refereed) Published
Resource type
Text
Abstract [en]

Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a disease gene for axial SMD. C21orf2 mutations have been recently found to cause isolated retinal degeneration and Jeune syndrome. We found a total of five biallelic C21orf2 mutations in six families out of nine: three missense and two splicing mutations in patients with various ethnic backgrounds. The pathogenic effects of the splicing (splice-site and branch-point) mutations were confirmed on RNA level, which showed complex patterns of abnormal splicing. C21orf2 mutations presented with a wide range of skeletal phenotypes, including cupped and flared anterior ends of ribs, lacy ilia and metaphyseal dysplasia of proximal femora. Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD. Functional data in chondrocyte suggest C21orf2 is implicated in cartilage differentiation. C21orf2 protein was localized to the connecting cilium of the cone and rod photoreceptors, confirming its significance in retinal function. Our study indicates that axial SMD is a member of a unique group of ciliopathy affecting skeleton and retina.

Place, publisher, year, edition, pages
Public library science , 2016. Vol. 11, no 3, e0150555
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:umu:diva-119660DOI: 10.1371/journal.pone.0150555ISI: 000372570600026OAI: oai:DiVA.org:umu-119660DiVA: diva2:925117
Available from: 2016-04-29 Created: 2016-04-25 Last updated: 2017-11-30Bibliographically approved

Open Access in DiVA

fulltext(6607 kB)50 downloads
File information
File name FULLTEXT01.pdfFile size 6607 kBChecksum SHA-512
47d62ec8951f8cd77e6119c409755f73703e43979cae40f2862d25cccbdb843d37e08f52a623fde83c7c940ce3b760cc2628be6f5f16c558cdf2e1b76bbe30c7
Type fulltextMimetype application/pdf

Other links

Publisher's full text

Authority records BETA

Stattin, Eva-Lena

Search in DiVA

By author/editor
Stattin, Eva-Lena
By organisation
Medical and Clinical Genetics
In the same journal
PLoS ONE
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar
Total: 50 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
urn-nbn

Altmetric score

doi
urn-nbn
Total: 60 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf