Human Genetics

, Volume 117, Issue 2, pp 207–212

Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3

  • G. S. Sellick
  • C. Longman
  • M. Brockington
  • I. Mahjneh
  • L. Sagi
  • K. Bushby
  • H. Topaloğlu
  • F. Muntoni
  • R. S. Houlston
Original Investigation

DOI: 10.1007/s00439-005-1301-4

Cite this article as:
Sellick, G.S., Longman, C., Brockington, M. et al. Hum Genet (2005) 117: 207. doi:10.1007/s00439-005-1301-4

Abstract

The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders, which present within the first 6 months of life with hypotonia, muscle weakness and contractures, associated with dystrophic changes on skeletal muscle biopsy. We have previously reported a large consanguineous family segregating merosin-positive congenital muscular dystrophy, in which involvement of known CMD loci was excluded. A genome-wide linkage search of the family conducted using microsatellite markers spaced at 10-Mb intervals failed to identify a disease locus. A second scan using a high-density SNP array, however, permitted a novel CMD locus on 4p16.3 to be identified (multipoint LOD score 3.4). Four additional consanguineous CMD families with a similar phenotype were evaluated for linkage to a 4.14-Mb interval on 4p16.3; however, none showed any evidence of linkage to the region. Our findings further illustrate the utility of highly informative SNP arrays compared with standard panels of microsatellite markers for the mapping of recessive disease loci.

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • G. S. Sellick
    • 1
  • C. Longman
    • 2
    • 3
  • M. Brockington
    • 2
  • I. Mahjneh
    • 4
  • L. Sagi
    • 2
  • K. Bushby
    • 5
  • H. Topaloğlu
    • 6
  • F. Muntoni
    • 2
  • R. S. Houlston
    • 1
  1. 1.Section of Cancer GeneticsInstitute of Cancer ResearchSuttonUK
  2. 2.Department of Paediatrics, Imperial CollegeHammersmith HospitalLondonUK
  3. 3.Department of Medical GeneticsYorkhill Hospital, GlasgowUK
  4. 4.University of Oulu and Pietarsaari HospitalPietarsaariFinland
  5. 5.Institute of Human GeneticsUniversity Newcastle upon TyneNewcastleUK
  6. 6.Department of Paediatric NeurologyHacettepe Children’s HospitalAnkaraTurkey