Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome

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dc.contributor.authorOrenay-Boyacioglu S.
dc.contributor.authorTekin M.
dc.contributor.authorDundar M.
dc.date.accessioned2024-07-22T08:12:43Z
dc.date.available2024-07-22T08:12:43Z
dc.date.issued2015
dc.description.abstractBackground and Objectives: Blindness-scoliosis-arachnodactyly syndrome has been described in a family with parental consanguinity. We present the strategy employed to determine the gene locus responsible for the syndrome. Design and Setting: A retrospective study of blindness-scoliosis-arachnodactyly syndrome patients at the Department of Medical Genetics, Erciyes University, between 2009-2010. Patients and Methods: Whole genome single nucleotide polymorphisms (SNPs) were scanned using a 250K Affymetrix array. We visually evaluated runs of homozygosity shared by two affected brothers that segregated in the entire pedigree with different combinations due to the unclear affected status of some siblings. Two and multiple-point LOD (logarithm [base 10] of odds) score analyses were performed by easyLINKAGEplus v5.08. Results: Five homozygous blocks over 2 Mb shared by two affected brothers segregated with phenotype in two affected and three unaffected siblings and in the mother whose phenotypes were unequivocal. The longest homozygous block in this analysis was on chromosome 14 between 67817621bp (rs7148416) and 82508151bp (rs17117757). When another sister with positive eye findings was added to the analysis, this region was narrowed to between 67817621bp (rs7148416) and 75657598bp (rs11626830), with a maximum LOD score of 2.3956 by two-point analysis. Three candidate genes were detected in this region. Conclusion: This study contributes to the existing literature on the region 67817621 bp 82508151 bp (rs17117757) on chromosome 14 and the three candidate genes, which could be responsible for the syndrome. © 2015 Annals of Saudi Medicine.
dc.identifier.DOI-ID10.5144/0256-4947.2015.462
dc.identifier.issn02564947
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/16160
dc.language.isoEnglish
dc.publisherKing Faisal Specialist Hospital and Research Centre
dc.rightsAll Open Access; Gold Open Access
dc.subjectAdult
dc.subjectArachnodactyly
dc.subjectBlindness
dc.subjectChromosomes, Human, Pair 14
dc.subjectConsanguinity
dc.subjectFemale
dc.subjectGenome-Wide Association Study
dc.subjectHumans
dc.subjectLod Score
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectPedigree
dc.subjectPhenotype
dc.subjectPolymorphism, Single Nucleotide
dc.subjectRetrospective Studies
dc.subjectScoliosis
dc.subjectSiblings
dc.subjectSyndrome
dc.subjectTurkey
dc.subjectYoung Adult
dc.subjectgenomic DNA
dc.subjectadult
dc.subjectarachnodactyly
dc.subjectArticle
dc.subjectautozygosity
dc.subjectblindness
dc.subjectcase report
dc.subjectchromosome 14
dc.subjectchromosome 5
dc.subjectclinical feature
dc.subjectexon
dc.subjectfamilial disease
dc.subjectfemale
dc.subjectgene
dc.subjectgene frequency
dc.subjectgene mutation
dc.subjectgenetic linkage
dc.subjecthomozygosity
dc.subjecthuman
dc.subjecthuman genome
dc.subjecthypermetropia
dc.subjecthypertrophy
dc.subjectkyphoscoliosis
dc.subjectlens luxation
dc.subjectLTBP2 gene
dc.subjectlung tuberculosis
dc.subjectmale
dc.subjectmyopia
dc.subjectpedigree
dc.subjectpigment epithelium
dc.subjectpriority journal
dc.subjectretina detachment
dc.subjectretrospective study
dc.subjectscoliosis
dc.subjectsibling
dc.subjectsingle nucleotide polymorphism
dc.subjectstrabismus
dc.subjectTurk (people)
dc.subjectvisual acuity
dc.subjectvisual impairment
dc.subjectyoung adult
dc.subjectzygosity
dc.subjectarachnodactyly
dc.subjectblindness
dc.subjectconsanguinity
dc.subjectgenetics
dc.subjectgenome-wide association study
dc.subjectlod score
dc.subjectmiddle aged
dc.subjectphenotype
dc.subjectscoliosis
dc.subjectsyndrome
dc.subjectTurkey
dc.titleAutozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome
dc.typeArticle

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