ArticleJournal of human genetics2015
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 45 citations in OpenAlex.
- UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype.Molecular genetics & genomic medicine · 2021Article
- Multiple cerebral cavernous malformations in association with a Dubowitz-like syndrome.Journal of cerebrovascular and endovascular neurosurgery · 2020Article
- 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype.Clinical case reports · 2018Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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