A Strabismus Susceptibility Locus on Chromosome 7p

Strabismus has been known to have a significant genetic component, but the mode of inheritance and the identity of the relevant genes have been enigmatic. This paper reports linkage analysis of nonsyndromic strabismus. The principal results of this study are: (i) the demonstrated feasibility of iden...

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Published in:Proceedings of the National Academy of Sciences - PNAS 2003-10, Vol.100 (21), p.12283-12288
Main Authors: Parikh, Vaishali, Shugart, Yin Yao, Doheny, Kimberly F., Zhang, Jie, Li, Lan, Williams, John, Hayden, David, Craig, Brian, Capo, Hilda, Chamblee, Denise, Chen, Cathy, Collins, Mary, Dankner, Stuart, Fiergang, Dean, Guyton, David, Hunter, David, Hutcheon, Marcia, Keys, Marshall, Morrison, Nancy, Munoz, Michelle, Parks, Marshall, Plotsky, David, Protzko, Eugene, Repka, Michael X., Sarubbi, Maria, Schnall, Bruce, Siatkowski, R. Michael, Traboulsi, Elias, Waeltermann, Joanne, Nathans, Jeremy
Format: Article
Language:English
Subjects:
Biological Sciences
Chromosome Mapping
Chromosomes
Chromosomes, Human, Pair 7 - genetics
Disease models
Eyes
Female
Gene loci
Genes, Recessive
Genetic inheritance
Genetic loci
Genetic Markers
Genomes
Haplotypes
Humans
Lod score
Male
Medical genetics
Modeling
Models, Genetic
Ophthalmology
Pedigree
Strabismus
Strabismus - genetics
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Summary:Strabismus has been known to have a significant genetic component, but the mode of inheritance and the identity of the relevant genes have been enigmatic. This paper reports linkage analysis of nonsyndromic strabismus. The principal results of this study are: (i) the demonstrated feasibility of identifying and recruiting large families in which multiple members have (or had) strabismus; (ii) the linkage in one large family of a presumptive strabismus susceptibility locus to 7p22.1 with a multipoint logarithm of odds score of 4.51 under a model of recessive inheritance; and (iii) the failure to observe significant linkage to 7p in six other multiplex families, consistent with genetic heterogeneity among families. These findings suggest that it will be possible to localize and ultimately identify strabismus susceptibility genes by linkage analysis and mutation screening of candidate genes.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.2035118100