A strabismus susceptibility locus on chromosome 7p

Vaishali Parikh, Yin Yao Shugart, Kimberly F. Doheny, Jie Zhang, Lan Li, John Williams, David Hayden, Brian Craig, Hilda Capo, Denise Chamblee, Cathy Chen, Mary Collins, Stuart Dankner, Dean Fiergang, David Guyton, David Hunter, Marcia Hutcheon, Marshall Keys, Nancy Morrison, Michelle MunozMarshall Parks, David Plotsky, Eugene Protzko, Michael X. Repka, Maria Sarubbi, Bruce Schnall, R. Michael Siatkowski, Elias Traboulsi, Joanne Waeltermann, Jeremy Nathans

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)12283-12288
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume100
Issue number21
DOIs
StatePublished - Oct 14 2003

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Strabismus
Chromosomes
Genes
Genetic Heterogeneity
Mutation

Keywords

  • Complex trait
  • Linkage
  • Ophthalmic genetics
  • Whole genome scan

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

Parikh, V., Shugart, Y. Y., Doheny, K. F., Zhang, J., Li, L., Williams, J., ... Nathans, J. (2003). A strabismus susceptibility locus on chromosome 7p. Proceedings of the National Academy of Sciences of the United States of America, 100(21), 12283-12288. https://doi.org/10.1073/pnas.2035118100

A strabismus susceptibility locus on chromosome 7p. / 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.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 100, No. 21, 14.10.2003, p. 12283-12288.

Research output: Contribution to journalArticle

Parikh, V, Shugart, YY, Doheny, KF, Zhang, J, Li, L, Williams, J, Hayden, D, Craig, B, Capo, H, Chamblee, D, Chen, C, Collins, M, Dankner, S, Fiergang, D, Guyton, D, Hunter, D, Hutcheon, M, Keys, M, Morrison, N, Munoz, M, Parks, M, Plotsky, D, Protzko, E, Repka, MX, Sarubbi, M, Schnall, B, Siatkowski, RM, Traboulsi, E, Waeltermann, J & Nathans, J 2003, 'A strabismus susceptibility locus on chromosome 7p', Proceedings of the National Academy of Sciences of the United States of America, vol. 100, no. 21, pp. 12283-12288. https://doi.org/10.1073/pnas.2035118100
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. / A strabismus susceptibility locus on chromosome 7p. In: Proceedings of the National Academy of Sciences of the United States of America. 2003 ; Vol. 100, No. 21. pp. 12283-12288.
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