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Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder
  1. E Kinning1,2,
  2. C Tufarelli1,
  3. W S Winship3,
  4. M A Aldred1,
  5. R C Trembath1,2
  1. 1Division of Medical Genetics, Departments of Genetics and Cardiovascular Science, University of Leicester, Leicester, UK
  2. 2Leicestershire Genetics Centre, Leicester Royal Infirmary
  3. 3Department of Paediatrics, University of Natal, South Africa
  1. Correspondence to:
 Professor Richard Trembath
 Division of Medical Genetics, Department of Genetics and Cardiovascular Science, University of Leicester, University Road, Leicester LE1 7RH, UK; richard.trembath{at}genetics.kcl.ac.uk

Abstract

Background: Dyggve Melchior Clausen syndrome (DMC) is a severe autosomal recessive skeletal dysplasia associated with mental retardation. Direct sequencing of genomic DNA has identified causative mutations in the gene Dymeclin (chromosome 18q12–21), with the majority predicting the generation of a truncated protein product.

Objective: To carry out molecular genetic studies in three DMC kindreds.

Results: Two novel nonsense mutations and two complex genomic duplication events resulting in exon repetition were identified.

Conclusions: Exon dosage assessment or mRNA analysis, in addition to direct genomic DNA sequencing, should be employed in the investigation of DMC affected individuals. Genomic duplication may be the causative mutation mechanism in other autosomal recessive disorders.

  • DMC, Dyggve Melchior Clausen syndrome
  • DQ, dosage quotient
  • STR, simple tandem repeat
  • skeletal dysplasia
  • Dyggve Melchior Clausen syndrome
  • autosomal recessive
  • exon duplication

https://doi.org/10.1136/jmg.2005.033829

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