NDLI: Molecular genetic heterogeneity in autosomal dominant drusen

Content Provider	PubMed Central
Author	Tarttelin, E. Gregory-evans, C. Bird, A. Weleber, R. Klein, M. Blackburn, J. Gregory-evans, K.
Abstract	OBJECTIVE—Autosomal dominant drusen is of particular interest because of its phenotypic similarity to age related macular degeneration. Currently, mutation R345W of EFEMP1 and, in a single pedigree, linkage to chromosome 6q14 have been causally related to the disease. We proposed to investigate and quantify the roles of EFEMP1 and the 6q14 locus in dominant drusen patients from the UK and USA. DESIGN—Molecular genetic analysis. PARTICIPANTS—Ten unrelated families and 17 young drusen patients. MAIN OUTCOME MEASURES—Exons 1 and 2 of EFEMP1 were characterised by 5' rapid amplification of cDNA ends and direct sequencing. Exons 1-12 of EFEMP1 were then investigated for mutation by direct sequencing. A HpaII restriction digest test was constructed to detect the EFEMP1 R345W mutation. Marker loci spanning the two dominant drusen linked loci were used to generate haplotype data. RESULTS—Only seven of the 10 families (70%) and one of the 17 sporadic patients (6%) had the R345W mutation. The HpaII restriction digest test was found to be a reliable and quick method for detecting this. No other exonic or splice site mutation was identified. Of the three families without EFEMP1 mutation, two were linked to the 2p16 region. CONCLUSIONS—EFEMP1 R345W accounts for only a proportion of the dominant drusen phenotype. Importantly, other families linked to chromosome 2p16 raise the possibility of EFEMP1 promoter sequence mutation or a second dominant drusen gene at this locus. Preliminary haplotype data suggest that the disease gene at the 6q14 locus is responsible for only a minority of dominant drusen cases.   Keywords: autosomal dominant drusen; molecular genetics
Related Links	http://dx.doi.org/10.1136/jmg.38.6.381
Ending Page	384
Page Count	4
Starting Page	381
File Format	PDF
ISSN	14686244
e-ISSN	14686244
Journal	Journal of Medical Genetics
Issue Number	6
Volume Number	38
Language	English
Publisher	BMJ Group
Publisher Date	2001-06-01
Access Restriction	Open
Rights Holder	BMJ Group
Subject Keyword	Genetics(clinical) Genetics 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
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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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