NDLI: Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Content Provider	PubMed Central
Author	Wang, Zheng Iida, Aritoshi Miyake, Noriko Nishiguchi, Koji M. Fujita, Kosuke Nakazawa, Toru Abdulrahman, Alswaid Albalwi, Md. A. Kim, Ok-hwa Cho, Tae-joon Lim, Gye-yeon Isidor, Bertrand David, Albert Rustad, Cecilie F. Else, Merckoll Westvik, Jostein Stattin, Eva-lena Grigelioniene, Giedre Kou, Ikuyo Nakajima, Masahiro Ohashi, Hirohumi Smithson, Sarah Matsumoto, Naomichi Nishimura, Gen Ikegawa, Shiro
Editor	Janecke, Andreas R.
Copyright Year	2016
Abstract	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.
Related Links	http://dx.doi.org/10.1371/journal.pone.0150555
Starting Page	150555
File Format	PDF
ISSN	19326203
e-ISSN	19326203
Journal	PLoS ONE
Issue Number	3
Volume Number	11
Language	English
Publisher	Public Library of Science
Publisher Date	2016-03-14
Access Restriction	Open
Rights Holder	Public Library of Science
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene

Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Increased Basal Activity Is a Key Determinant in the Severity of Human Skeletal Dysplasia Caused by TRPV4 Mutations

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Similar Documents

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene

Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Increased Basal Activity Is a Key Determinant in the Severity of Human Skeletal Dysplasia Caused by TRPV4 Mutations

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations