title: Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity.
abstract: X-linked congenital stationary night blindness (CSNB1) is a hereditary retinal disorder in which clinical features in affected males usually include myopia, nystagmus, and impaired visual acuity. Electroretinography demonstrates a marked reduction in b-wave amplitude. In the study of a large Mennonite family with CSNB1, three of five sisters in one sibship were found to have manifestations of CSNB1. All the sons of these three sisters were affected. Each of the two nonmanifesting sisters had at least one unaffected son. Analysis of Xp markers in the region Xp21.1-Xp11.22 showed that the two sisters who were unaffected had inherited the same maternal X chromosome (i.e., M2). Two of the daughters who manifested with CSNB had inherited the other maternal X chromosome (M1). The third manifesting sister inherited a recombinant X chromosome with a crossover between TIMP and DXS255, which suggests that the CSNB1 locus lies proximal to TIMP. One of the affected daughters' sons had inherited the maternal M1 X chromosome, a finding consistent with that chromosome carrying a mutant CSNB gene; the other affected sons inherited the grandfather's X chromosome (i.e., P). Molecular analysis of DNA from three sisters with manifestations of CSNB is consistent with their being homozygous at the CSNB1 locus and with their mother being a carrier of CSNB1.
authors.affiliation: Department of Paediatrics, Alberta Children's Hospital, Calgary, Canada.
authors.forename: N T
authors.initials: NT
authors.lastname: Bech-Hansen
authors.forename: W G
authors.initials: WG
authors.lastname: Pearce
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D014792:Visual Acuity; D014960:X Chromosome