Universität zu Köln

Khan, Arif O., Lenzner, Steffen and Bolz, Hanno J. (2017). A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy. Ophthalmic Genet., 38 (4). S. 380 - 383. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

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Abstract

Purpose: To document recessive FZD4-related familial exudative vitreoretinopathy. Methods: Retrospective case series. Results: Two brothers, the only two males among five siblings, had bilateral infantile retinal detachments and were referred for genetic counseling. Next-generation sequencing uncovered a homozygous FZD4 frameshift deletion in both affected brothers (c.40_49delCCCGGGGGCG; p.Prol4Serfs*44): None of the other immediate family members had clinical evidence for retinal disease, including the three family members who underwent confirmatory genetic testing and were found to be heterozygous for the mutation (both parents and one sister). Conclusions: The findings in this family support the concept that some mutated FZD4 alleles can be associated With recessive rather than dominant disease.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Khan, Arif O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lenzner, Steffen UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, Hanno J. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-224283
DOI:	10.1080/13816810.2016.1217551
Journal or Publication Title:	Ophthalmic Genet.
Volume:	38
Number:	4
Page Range:	S. 380 - 383
Date:	2017
Publisher:	TAYLOR & FRANCIS INC
Place of Publication:	PHILADELPHIA
ISSN:	1744-5094
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language FRIZZLED-4 GENE; KIF11 MUTATIONS Multiple languages Genetics & Heredity; Ophthalmology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/22428