Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.

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Fältnamn	Indikatorer	Metadata
000		04068naa a2200421 4500
001		oai:DiVA.org:umu-36998
003		SwePub
008		101014s2009 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-369982 URI
024	7	a https://doi.org/10.1038/ejhg.2008.2232 DOI
040		a (SwePub)umu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Köhn, Lindau Umeå universitet,Medicinsk och klinisk genetik4 aut0 (Swepub:umu)liaann99
245	1 0	a Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.
264		c 2008-12-03
264	1	b Springer Science and Business Media LLC,c 2009
338		a print2 rdacarrier
520		a The aim of this study was to identify and characterize the underlying molecular mechanisms in autosomal-dominant retinitis pigmentosa (adRP) with incomplete penetrance in two Swedish families. An extended genealogical study and haplotype analysis indicated a common origin. Mutation identification was carried out by multiplex ligation-dependent probe amplification (MLPA) and sequencing. Clinical examinations of adRP families including electroretinography revealed obligate gene carriers without abnormalities, which indicated incomplete penetrance. Linkage analysis resulted in mapping of the disease locus to 19q13.42 (RP11). Sequence analyses did not reveal any mutations segregating with the disease in eight genes including PRPF31. Subsequent MLPA detected a large genomic deletion of 11 exons in the PRPF31 gene and, additionally, three genes upstream of the PRPF31. Breakpoints occurred in intron 11 of PRPF31 and in LOC441864, 'similar to osteoclast-associated receptor isoform 5.' An almost 59 kb deletion segregated with the disease in all affected individuals and was present in several asymptomatic family members but not in 20 simplex RP cases or 94 healthy controls tested by allele-specific PCR. A large genomic deletion resulting in almost entire loss of PRPF31 and three additional genes identified as the cause of adRP in two Swedish families provide an additional evidence that mechanism of the disease evolvement is haploinsufficiency. Identification of the deletion breakpoints allowed development of a simple tool for molecular testing of this genetic subtype of adRP.
653		a PRPF31
653		a retinitis pigmentosa
653		a RP11
653		a deletion
653		a haploinsufficiency
700	1	a Bowne, Sara Ju Laboratory for Molecular Diagnosis of Inherited Eye Diseases, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA4 aut
700	1	a S Sullivan, Loriu Laboratory for Molecular Diagnosis of Inherited Eye Diseases, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA4 aut
700	1	a Daiger, Stephen Pu Laboratory for Molecular Diagnosis of Inherited Eye Diseases, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA4 aut
700	1	a Burstedt, Marie S Iu Umeå universitet,Oftalmiatrik4 aut0 (Swepub:umu)maebut83
700	1	a Kadzhaev, Konstantinu Umeå universitet,Medicinsk och klinisk genetik4 aut0 (Swepub:umu)koka0001
700	1	a Sandgren, Olau Umeå universitet,Oftalmiatrik4 aut0 (Swepub:umu)olsa0001
700	1	a Golovleva, Irinau Umeå universitet,Medicinsk och klinisk genetik4 aut0 (Swepub:umu)irgo0001
710	2	a Umeå universitetb Medicinsk och klinisk genetik4 org
773	0	t European Journal of Human Geneticsd : Springer Science and Business Media LLCg 17:5, s. 651-655q 17:5<651-655x 1018-4813x 1476-5438
856	4	u https://www.nature.com/articles/ejhg2008223.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-36998
856	4 8	u https://doi.org/10.1038/ejhg.2008.223

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Av författaren/redakt...: Köhn, Linda; Bowne, Sara J; S Sullivan, Lori; Daiger, Stephen ...; Burstedt, Marie ...; Kadzhaev, Konsta ...; visa fler...; Sandgren, Ola; Golovleva, Irina; visa färre...

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Av lärosätet: Umeå universitet

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