Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

E Kinning, C Tufarelli, W S Winship, M A Aldred, R C Trembath

Research output: Contribution to journalLetterpeer-review

18 Citations (Scopus)

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
Original languageEnglish
Article numbere70
Pages (from-to)e70
JournalJournal of Medical Genetics
Volume42
Issue number12
Publication statusPublished - Dec 2005

Fingerprint

Dive into the research topics of 'Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder'. Together they form a unique fingerprint.

Cite this