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A third locus for dominant optic atrophy on chromosome 22q
  1. F Barbet1,
  2. S Hakiki2,
  3. C Orssaud2,
  4. S Gerber1,
  5. I Perrault1,
  6. S Hanein1,
  7. D Ducroq1,
  8. J-L Dufier2,
  9. A Munnich1,
  10. J Kaplan1,
  11. J-M Rozet1
  1. 1Unité de Recherches sur les Handicaps Génétiques de l’Enfant. Hôpital Necker-Enfants Malades, Paris, France
  2. 2Service d’ Ophtalmologie, Hôpital Necker-Enfants Malades
  1. Correspondence to:
 Dr Josseline Kaplan
 Unité de Recherches sur les Handicaps Génétiques de l’Enfant, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France; kaplannecker.fr

https://doi.org/10.1136/jmg.2004.025502

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    Autosomal dominant optic atrophy (ADOA) is the most common form of autosomally inherited optic neuropathy, with an estimated prevalence of 1:50 000 in most populations,1 though it can reach 1:10 000 in Denmark.2 The disease typically presents in childhood with variable bilateral slow visual loss, temporal optic nerve pallor, centro-caecal visual field scotoma, and abnormalities of colour vision.3 In most families, the disease is accounted for by mutations in the OPA1 gene, at the OPA1 locus on chromosome 3q28–q29 (MIM165500). The penetrance of the OPA1 disease is highly variable as well as its age of onset, even within the same family.

    Some ADOA families have been shown to exclude linkage to the OPA1 locus.4,5 In 1999, the genetic study of a large family whose phenotype was similar to the OPA1 phenotype, allowed the mapping of a second ADOA locus on chromosome 18q12.2–q12.3 (OPA4, MIM605293).5 To date, no report has confirmed this localisation and the disease gene is still unknown.

    Here we report the mapping of a third ADOA locus on chromosome 22q12.1–q13.1 (OPA5) in two unrelated families affected with a OPA1-like phenotype.

    METHODS

    Patients

    Two unrelated multiplex families of French origin affected with autosomal dominant optic atrophy were ascertained through the genetic consultation clinic of the Hôpital des Enfants Malades in Paris (family A and family B; fig 1 A and B, respectively). All members of each family underwent ophthalmological examination including visual acuity measurements, visual field testing, colour vision analysis, ocular pressure measurement, examination of the fundi, and electrophysiological recordings. Blood was collected from all family members and the DNA was purified by phenol-chloroform extraction.

    Figure 1

    Haplotype of families A and B at the OPA5 locus on chromosome 22q12.1–q13.1, respectively. The disease haplotype is squared in each patient.

    Linkage analysis

    Linkage to known ADOA loci was studied in …

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