A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q

作者：Kamenarova Kunka; Cherninkova Sylvia; Romero Duran Margarita; Prescott DeQuincy; Valdes Sanchez Maria Lourdes; Mitev Vanio; Kremensky Ivo; Kaneva Radka; Bhattacharya Shomi S; Tournev Ivailo; Chakarova Christina^*

来源：European Journal of Human Genetics, 2013, 21(3): 338-342.

DOI：10.1038/ejhg.2012.158

• linkage analysis
• cone-rod dystrophy
• novel locus

Here we report recruitment of a three-generation Romani (Gypsy) family with autosomal dominant cone-rod dystrophy (adCORD). Involvement of known adCORD genes was excluded by microsatellite (SIR) genotyping and linkage analysis. Subsequently, two independent total-genome scans using SIR markers and single-nucleotide polymorphisms (SNPs) were performed. Haplotype analysis revealed a single 6.7-Mb novel locus between markers D10S1757 and D10S1782 linked to the disease phenotype on chromosome 10q26. Linkage analysis gave a maximum LOD score of 3.31 for five fully informative SIR markers within the linked interval corresponding to the expected maximum in the family. Multipoint linkage analysis of SNP genotypes yielded a maximum parametric linkage score of 2.71 with markers located in the same chromosomal interval. There is no previously mapped CORD locus in this interval, and therefore the data reported here is novel and likely to identify a new gene that may eventually contribute to new knowledge on the pathogenesis of this condition. Sequencing of several candidate genes within the mapped interval led to negative findings in terms of the underlying molecular pathogenesis of the disease in the family. Analysis by comparative genomic hybridization excluded large chromosomal aberrations as causative of adCORD in the pedigree. European Journal of Human Genetics (2013) 21, 338-342; doi:10.1038/ejhg.2012.158; published online 29 August 2012

• 出版日期2013-3