title: A strabismus susceptibility locus on chromosome 7p.
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.
authors.affiliation: Departments of Molecular Biology and Genetics, Neuroscience, and Ophthalmology, and Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Vaishali
authors.initials: V
authors.lastname: Parikh
authors.forename: Yin Yao
authors.initials: YY
authors.lastname: Shugart
authors.forename: Kimberly F
authors.initials: KF
authors.lastname: Doheny
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.forename: Lan
authors.initials: L
authors.lastname: Li
authors.forename: John
authors.initials: J
authors.lastname: Williams
authors.forename: David
authors.initials: D
authors.lastname: Hayden
authors.forename: Brian
authors.initials: B
authors.lastname: Craig
authors.forename: Hilda
authors.initials: H
authors.lastname: Capo
authors.forename: Denise
authors.initials: D
authors.lastname: Chamblee
authors.forename: Cathy
authors.initials: C
authors.lastname: Chen
authors.forename: Mary
authors.initials: M
authors.lastname: Collins
authors.forename: Stuart
authors.initials: S
authors.lastname: Dankner
authors.forename: Dean
authors.initials: D
authors.lastname: Fiergang
authors.forename: David
authors.initials: D
authors.lastname: Guyton
authors.forename: David
authors.initials: D
authors.lastname: Hunter
authors.forename: Marcia
authors.initials: M
authors.lastname: Hutcheon
authors.forename: Marshall
authors.initials: M
authors.lastname: Keys
authors.forename: Nancy
authors.initials: N
authors.lastname: Morrison
authors.forename: Michelle
authors.initials: M
authors.lastname: Munoz
authors.forename: Marshall
authors.initials: M
authors.lastname: Parks
authors.forename: David
authors.initials: D
authors.lastname: Plotsky
authors.forename: Eugene
authors.initials: E
authors.lastname: Protzko
authors.forename: Michael X
authors.initials: MX
authors.lastname: Repka
authors.forename: Maria
authors.initials: M
authors.lastname: Sarubbi
authors.forename: Bruce
authors.initials: B
authors.lastname: Schnall
authors.forename: R Michael
authors.initials: RM
authors.lastname: Siatkowski
authors.forename: Elias
authors.initials: E
authors.lastname: Traboulsi
authors.forename: Joanne
authors.initials: J
authors.lastname: Waeltermann
authors.forename: Jeremy
authors.initials: J
authors.lastname: Nathans
mesh_terms: D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D013285:Strabismus / Q000235:genetics*
chemical_list: D005819:Genetic Markers