Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

被引：0
作者：
Louise M Downey
T Jeffrey Keen
Ismail K Jalili
John McHale
Michael J Aldred
Steven P Robertson
Alan Mighell
Steven Fayle
Bernd Wissinger
Chris F Inglehearn
机构：
[1] Molecular Medicine Unit,Eye Department
[2] CSB,Department of Dentistry
[3] St James's University Hospital,Department of Paediatrics
[4] Leeds University,undefined
[5] Peterborough Hospital NHS Trust,undefined
[6] Royal Children's Hospital,undefined
[7] Murdoch Children's Research Institute,undefined
[8] The University of Melbourne,undefined
[9] Dental Institute,undefined
[10] Worsley Building,undefined
[11] Leeds University,undefined
[12] Molecular Genetics laboratory,undefined
[13] University Eye Hospital,undefined
来源：
European Journal of Human Genetics | 2002年 / 10卷
关键词：
amelogenesis imperfecta; cone-rod dystrophy; retinal degeneration; retina; teeth;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
引用
收藏
页码：865 / 869
页数：4
相关论文
共 90 条
  • [1] Witkop CJ(1988)Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification J Oral Pathol 17 547-553
  • [2] Aldred MJ(1992)Genetic heterogeneity in X-linked amelogenesis imperfecta Genomics 14 567-573
  • [3] Crawford PJ(1991)A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1) Genomics 10 971-975
  • [4] Roberts E(1993)Clinical features of a family with X-linked amelogenesis imperfecta mapping to a new locus (AIH3) on the long arm of the X chromosome Oral Surg Oral Med Oral Pathol 76 187-191
  • [5] Lagerstrom M(1997)Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21 Genomics 39 164-170
  • [6] Dahl N(2001)Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta Hum Mol Genet 10 1673-1677
  • [7] Nakahori Y(1988)Amelogenesis imperfecta: a genetic study Hum Hered 38 189-206
  • [8] Crawford PJ(1979)Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta Oral Surg Oral Med Oral Pathol 47 148-156
  • [9] Aldred MJ(1992)Cone and cone-rod dystrophies J Med Genet 29 289-290
  • [10] Karrman C(1995)Mutation analysis of the ROM1 gene in retinitis pigmentosa Hum Mol Genet 4 1895-1902
123456789