European Journal of Human Genetics
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December 2002, Volume 10, Number 12, Pages 865-869
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Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate
Louise M Downey1, T Jeffrey Keen1, Ismail K Jalili2, John McHale1, Michael J Aldred3,4,5, Steven P Robertson4, Alan Mighell1,6, Steven Fayle6, Bernd Wissinger7 and Chris F Inglehearn1

1Molecular Medicine Unit, CSB, St James's University Hospital, Leeds University, Leeds LS9 7TF UK

2Eye Department, Peterborough Hospital NHS Trust, Cambridgeshire, UK

3Department of Dentistry, Royal Children's Hospital, Melbourne, Australia

4Murdoch Children's Research Institute, Melbourne, Australia

5Department of Paediatrics, The University of Melbourne, Australia

6Dental Institute, Worsley Building, Leeds University, Leeds, UK

7Molecular Genetics laboratory, University Eye Hospital, Tuebingen, Germany

Correspondence to: C F Inglehearn, Molecular Medicine Unit, Clinical Sciences Building, St James's University Hospital, Leeds LS9 7TF, UK. Tel: 44-113-2065698; Fax: 44-113-2444475; E-mail:


A consanguineous Arab pedigree in which recessive amelogenesis imperfecta (AI) and cone-rod dystrophy cosegregate, was screened for linkage to known retinal dystrophy and tooth abnormality loci by genotyping neighbouring microsatellite markers. This analysis resulted in linkage with a maximum lod score of 7.03 to the marker D2S2187 at the achromatopsia locus on chromosome 2q11, and haplotype analysis placed the gene(s) involved in a 2 cM/5 Mb interval between markers D2S2209 and D2S373. The CNGA3 gene, known to be involved in achromatopsia, lies in this interval but thorough analysis of its coding sequence revealed no mutation. Furthermore, affected individuals in four consanguineous recessive pedigrees with AI but without CRD were heterozygous at this locus, excluding it as a common cause of non-syndromic recessive AI. It remains to be established whether this pedigree is segregating two closely linked mutations causing disparate phenotypes or whether a single defect is causing pathology in both teeth and eyes.

European Journal of Human Genetics (2002) 10, 865-869. doi:10.1038/sj.ejhg.5200884


amelogenesis imperfecta; cone-rod dystrophy; retinal degeneration; retina; teeth

Received 5 March 2002; revised 2 August 2002; accepted 13 August 2002
December 2002, Volume 10, Number 12, Pages 865-869
Table of contents    Previous  Abstract  Next   Full text  PDF