Related resources
Full-text held externally
- PMID: 26377242
- UKPMCID: 26377242
- DOI: 10.1038/jhg.2015.111
Search for item elsewhere
University researcher(s)
Academic department(s)
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.
Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; Bowers, Naomi; Clayton-Smith, Jill; Newman, William G
Journal of human genetics. 2015;.
Access to files
Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:
Full-text held externally
- PMID: 26377242
- UKPMCID: 26377242
- DOI: 10.1038/jhg.2015.111
Abstract
Dubowitz syndrome is a presumed autosomal recessive disorder characterized by multiple congenital abnormalities: microcephaly, learning and developmental delay, growth failure, and a predisposition to allergies and eczema. There have been more than 150 individuals reported to have this diagnosis, but no unifying genetic alteration has been identified indicating genetic heterogeneity. We report on a pair of monozygotic twins diagnosed clinically with Dubowitz syndrome by Professor Dubowitz over 30 years ago and identified to have a de novo heterozygous 3.2-Mb deletion at 19q13.11q13.12. Exome sequencing did not identify either a putative pathogenic variant on the trans allele supporting recessive inheritance or any other causative sequence variants. Comparison of the phenotype in our cases shows considerable overlap with the 19q13.11 microdeletion syndrome, suggesting that a subset of individuals diagnosed with Dubowitz syndrome may be due to deletions at 19q13. Our finding further reinforces the genetic and phenotypic heterogeneity of Dubowitz syndrome.Journal of Human Genetics advance online publication, 17 September 2015; doi:10.1038/jhg.2015.111.