A strabismus susceptibility locus on chromosome 7p

Vaishali Parikh(Johns Hopkins University), Yin Yao Shugart(Johns Hopkins University), Kimberly F. Doheny(Johns Hopkins University), Jie Zhang(Johns Hopkins University), Lan Li(Johns Hopkins University), John Williams(Johns Hopkins University), David Hayden(Johns Hopkins University), Brian Craig(Johns Hopkins University), Hilda Capó(Johns Hopkins University), Denise Chamblee(Johns Hopkins University), Cathy Chen(Johns Hopkins University), Mary Louise Z. Collins(Johns Hopkins University), Stuart R. Dankner(Johns Hopkins University), Dean L Fiergang(Johns Hopkins University), David L. Guyton(Johns Hopkins University), David G. Hunter(Johns Hopkins University), Marcia Hutcheon(Johns Hopkins University), Marshall P. Keys(Johns Hopkins University), N. D. Morrison(Johns Hopkins University), Michelle Muñoz(Johns Hopkins University), Marshall M. Parks(Johns Hopkins University), David Plotsky(Johns Hopkins University), Eugene Protzko(Johns Hopkins University), Michael X. Repka(Johns Hopkins University), Maria Cristina Sarubbi(Johns Hopkins University), Bruce Schnall(Johns Hopkins University), R. Michael Siatkowski(Johns Hopkins University), Elias I. Traboulsi(Cleveland Clinic), Joanne M. Waeltermann(Johns Hopkins University), Jeremy Nathans(Johns Hopkins University)
Proceedings of the National Academy of Sciences
September 30, 2003
10.1073/pnas.2035118100
Cited by 72Open Access
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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.

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