NDLI: Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

Content Provider	PubMed Central
Author	Marion, Failler Gee, Heon yung Krug, Pauline Joo, Kwangsic Halbritter, Jan Belkacem, Lilya Filhol, Emilie Porath, Jonathan d. Braun, Daniela a. Schueler, Markus Frigo, Amandine Olivier, Alibeu Masson, Cécile Brochard, Karine Bruno, Hurault de ligny Novo, Robert Christine, Pietrement Kayserili, Hulya Salomon, Rémi Gubler, Marie-claire Otto, Edgar a. Corinne, Antignac Kim, Joon Alexandre, Benmerah Hildebrandt, Friedhelm Saunier, Sophie
Copyright Year	2014
Abstract	Ciliopathies are a group of hereditary disorders associated with defects in cilia structure and function. The distal appendages (DAPs) of centrioles are involved in the docking and anchoring of the mother centriole to the cellular membrane during ciliogenesis. The molecular composition of DAPs was recently elucidated and mutations in two genes encoding DAPs components (CEP164/NPHP15, SCLT1) have been associated with human ciliopathies, namely nephronophthisis and orofaciodigital syndrome. To identify additional DAP components defective in ciliopathies, we independently performed targeted exon sequencing of 1,221 genes associated with cilia and 5 known DAP protein-encoding genes in 1,255 individuals with a nephronophthisis-related ciliopathy. We thereby detected biallelic mutations in a key component of DAP-encoding gene, CEP83, in seven families. All affected individuals had early-onset nephronophthisis and four out of eight displayed learning disability and/or hydrocephalus. Fibroblasts and tubular renal cells from affected individuals showed an altered DAP composition and ciliary defects. In summary, we have identified mutations in CEP83, another DAP-component-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals.
Related Links	http://dx.doi.org/10.1016/j.ajhg.2014.05.002
Ending Page	914
Page Count	10
Starting Page	905
File Format	PDF
ISSN	15376605
e-ISSN	15376605
Journal	American Journal of Human Genetics
Issue Number	6
Volume Number	94
Language	English
Publisher	Elsevier
Publisher Date	2014-06-05
Access Restriction	Open
Rights Holder	Elsevier
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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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
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