Universität zu Köln

Rahner, Nils, Nuernberg, Gudrun, Finis, David, Nuernberg, Peter and Royer-Pokora, Brigitte (2016). A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. Ophthalmic Genet., 37 (3). S. 294 - 301. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

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Abstract

Background: To identify the disease-causing mutation in a consanguineous family of Morrocan origin with syndromic autosomal recessive (ar) cone-rod dystrophy (CRD) in two patients and describe genotype-phenotype correlations.Materials and Methods: Genome-wide homozygosity mapping and direct sequencing of C8orf37, located in a homozygous interval, was performed in the family. mRNA analysis revealed the effect of the newly identified splice-site mutation. For a comparative analysis phenotypic and genetic data of C8orf37 mutations were extracted from published cases.Results: The new splice-site mutation c.155+2T>C identified in the family results in a skipping of 82 bp. The CRD phenotypes of our patients were consistent with previous reports. Non-ocular findings in our patients and two previously described patients were postaxial polydactyly present at birth. Both families with additional postaxial polydactyly had splice site mutations affecting intron 1 of C8orf37, one at the slice donor and one at the splice acceptor site.Conclusions: This report extends the genotypic spectrum of C8orf37-associated retinal dystrophies and demonstrates for the first time a genotype-phenotype correlation between an arCRD-polydactyly-association and truncating germline mutations affecting the N-terminal region of the protein. Furthermore, our findings underline the ciliary function of C8orf37 protein.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Rahner, Nils UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Gudrun UNSPECIFIED UNSPECIFIED UNSPECIFIED Finis, David UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Royer-Pokora, Brigitte UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-265005
DOI:	10.3109/13816810.2015.1071408
Journal or Publication Title:	Ophthalmic Genet.
Volume:	37
Number:	3
Page Range:	S. 294 - 301
Date:	2016
Publisher:	TAYLOR & FRANCIS INC
Place of Publication:	PHILADELPHIA
ISSN:	1744-5094
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language BARDET-BIEDL-SYNDROME; RETINITIS-PIGMENTOSA; REVEALS; DISEASE Multiple languages Genetics & Heredity; Ophthalmology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/26500