ArticleEuropean journal of human genetics : EJHG2011
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- An Unclassified Deletion Involving the Proximal Short Arm of Chromosome 10: A New Syndrome?Genes · 2024Article
- Loss-of-function variants inJournal of medical genetics · 2024Article
- Expression analyses of WAC, a responsible gene for neurodevelopmental disorders, during mouse brain development.Medical molecular morphology · 2023Article
- Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.Molecular genetics & genomic medicine · 2022Article
- Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.PLoS genetics · 2021Article
- De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.European journal of human genetics : EJHG · 2016Article
- Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31.Journal of human genetics · 2015Article
- De novo mutations in moderate or severe intellectual disability.PLoS genetics · 2014Article
- Rapid progression of aortic stenosis in a 3-month-old infant with bicuspid aortic valve and DeSanto-Shinawi syndrome.Annals of pediatric cardiologyArticle
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18 authors.
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Abstract
With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced rearrangements in patients with syndromic developmental delay has improved considerably. Here we report the molecular karyotyping and phenotypic description of six new unrelated patients with partially overlapping microdeletions at 10p12.31p11.21 ranging from 1.0 to 10.6 Mb. The smallest region of overlap is 306 kb, which includes WAC gene, known to be associated with microtubule function and to have a role in cell division. Another patient has previously been described with a 10 Mb deletion, partially overlapping with our six patients. All seven patients have developmental delay and a majority of the patients have abnormal behaviour and dysmorphic features, including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows and full cheeks, whereas other features varied. All patients also displayed various visual impairments and six out of seven patients had cardiac malformations. Taken together with the previously reported patient, our study suggests that the detected deletions may represent a new contiguous gene syndrome caused by dosage-sensitive genes that predispose to developmental delay.
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