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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Acknowledgements
We thank all of the families for agreeing to participate in this study. This work was supported by grants from the Sävstaholm Society, the Borgström Foundation, Foundation Jerome Lejeune and the Canadian Institutes of Health Research (ERS). ERS acknowledges the Michael Smith Foundation of Health Research Scholar Award. We are grateful for technical assistance and scientific discussion to Laure Lecerf, Audrey Briand and Sandra Whalen.
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Wentzel, C., Rajcan-Separovic, E., Ruivenkamp, C. et al. Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. Eur J Hum Genet 19, 959–964 (2011). https://doi.org/10.1038/ejhg.2011.71
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DOI: https://doi.org/10.1038/ejhg.2011.71
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