Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

T. Jeffrey Keen, Moin D. Mohamed, Martin McKibbin, Yasmin Rashid, Hussain Jafri, Irene H. Maumenee, Chris F. Inglehearn

Research output: Contribution to journalArticlepeer-review

Abstract

Leber's congenital amaurosis (LCA) is the most common cause of inherited childhood blindness and is characterised by severe retinal degeneration at or shortly after birth. We have identified a new locus, LCA9, on chromosome 1p36, at which the disease segregates in a single consanguineous Pakistani family. Following a whole genome linkage search, an autozygous region of 10 cM was identified between the markers D1S1612 and D1S228. Multipoint linkage analysis generated a lod score of 4.4, strongly supporting linkage to this region. The critical disease interval contains at least 5.7 Mb of DNA and around 50 distinct genes. One of these, retinoid binding protein 7 (RBP7), was screened for mutations in the family, but none was found.

Original languageEnglish (US)
Pages (from-to)420-423
Number of pages4
JournalEuropean Journal of Human Genetics
Volume11
Issue number5
DOIs
StatePublished - May 1 2003

Keywords

  • 1p36
  • LCA
  • LCA9
  • Leber's congenital amaurosis
  • Linkage
  • Retina

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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