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A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
  1. T Tukel1,
  2. A Uzumcu2,
  3. A Gezer3,
  4. H Kayserili2,
  5. M Yuksel-Apak2,
  6. O Uyguner2,
  7. S H Gultekin4,
  8. H-C Hennies5,
  9. P Nurnberg5,
  10. R J Desnick1,*,
  11. B Wollnik2,*
  1. 1Department of Human Genetics, Istanbul Faculty of Medicine of Istanbul University, Istanbul, Turkey
  2. 2Child Health Institute, Division of Medical Genetics, Istanbul University
  3. 3Department of Ophthalmology, Istanbul Faculty of Medicine, Istanbul University
  4. 4Department of Pathology, Section of Neuropathology, Istanbul University
  5. 5Gene Mapping Centre and Department of Molecular Genetics, Max Delbruck Centre for Molecular Genetics, Berlin, Germany
  1. Correspondence to:
 Professor Robert J Desnick
 Department of Human Genetics, Mount Sinai School of Medicine, 1425 Madison Avenue, Box 1498, New York, NY 10029, USA; or Dr Bernd Wollnik, Institute of Child Health, Division of Medical Genetics, Istanbul University, Millet Caddesi, Capa, 34390 Istanbul, Turkey;


Background: Congenital fibrosis of the extraocular muscles (CFEOM) is a heterogeneous group of disorders that may be associated with other anomalies. The association of a CFEOM syndrome with ulnar hand abnormalities (CFEOM/U) has not been reported to date.

Objective: To describe a new autosomal recessive syndrome of CFEOM and ulnar hand abnormalities, and localise the disease causing gene.

Methods: Clinical evaluation of the affected members and positional mapping.

Results: Six affected patients with CFEOM/U (aged 2 to 29 years) from a large consanguineous Turkish family were studied. Ophthalmological involvement was characterised by non-progressive restrictive ophthalmoplegia with blepharoptosis of the right eye. The postaxial oligodactyly/oligosyndactyly of the hands was more severe on the right side. A genome-wide scan established linkage of this new autosomal recessive syndrome to a locus on chromosome 21qter. The multipoint LOD score was 4.53 at microsatellite marker D21S1259, and fine mapping defined a ∼1.5 Mb critical region between microsatellite marker D21S1897 and the telomere of the long arm.

Conclusions: CFEOM/U maps to a 1.5 Mb region at chromosome 21qter. Future identification of the disease causing gene may provide insights into the development of the extraocular muscles and brain stem α motor neurones, as well as anteroposterior limb development.

  • CFEOM, congenital fibrosis of extraocular muscles
  • CFEOM/U, congenital fibrosis of extraocular muscles with ulnar hand abnormalities
  • DRRS, Duane radial ray syndrome
  • SNP, single nucleotide polymorphism
  • OD, right eye
  • OS, left eye
  • ulnar hand anomaly
  • chromosome 21qter

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  • * Co-senior authors who contributed equally to this research

  • Competing interests: none declared

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