Universität zu Köln

Reiff, Charlotte, Owczarek-Lipska, Marta, Spital, Georg, Roeger, Carsten, Hinz, Hebke, Jueschke, Christoph, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Da Costa, Romain ORCID: 0000-0001-6729-3029 and Neidhardt, John (2016). The mutation p. E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family. Sci Rep, 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

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Abstract

The diagnoses of retinitis pigmentosa (RP) and stationary night blindness (CSNB) are two distinct clinical entities belonging to a group of clinically and genetically heterogeneous retinal diseases. The current study focused on the identification of causative mutations in the RP-affected index patient and in several members of the same family that reported a phenotype resembling CSNB. Ophthalmological examinations of the index patient confirmed a typical form of RP. In contrast, clinical characterizations and ERGs of another affected family member showed the Riggs-type CSNB lacking signs of RP. Applying whole exome sequencing we detected the non-synonymous substitution c.337G > A, p. E113 K in the rhodopsin (RHO) gene. The mutation co-segregated with the diseases. The identification of the pathogenic variant p. E113 K is the first description of a naturally-occurring mutation in the Schiff base counterion of RHO in human patients. The heterozygous mutation c. 337G > A in exon 1 was confirmed in the index patient as well as in five CSNB-affected relatives. This pathogenic sequence change was excluded in a healthy family member and in 199 ethnically matched controls. Our findings suggest that a mutation in the biochemically well-characterized counterion p.E113 in RHO can be associated with RP or Riggs-type CSNB, even within the same family.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Reiff, Charlotte UNSPECIFIED UNSPECIFIED UNSPECIFIED Owczarek-Lipska, Marta UNSPECIFIED UNSPECIFIED UNSPECIFIED Spital, Georg UNSPECIFIED UNSPECIFIED UNSPECIFIED Roeger, Carsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Hinz, Hebke UNSPECIFIED UNSPECIFIED UNSPECIFIED Jueschke, Christoph UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Da Costa, Romain UNSPECIFIED orcid.org/0000-0001-6729-3029 UNSPECIFIED Neidhardt, John UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-255911
DOI:	10.1038/srep36208
Journal or Publication Title:	Sci Rep
Volume:	6
Date:	2016
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	LONDON
ISSN:	2045-2322
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language STATIONARY NIGHT BLINDNESS; RETINITIS-PIGMENTOSA; ROD CELL; GENE; MECHANISMS; MUTANTS; PHOTOACTIVATION; PHOTORECEPTOR; SWITCH; G90D Multiple languages Multidisciplinary Sciences Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/25591