Journal
GENE
Volume 528, Issue 2, Pages 352-355Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2013.07.024
Keywords
1p36 deletion; Shprintzen-Goldberg syndrome; SNP array; Epilepsy; Copy number variation; Congenital heart defect
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Funding
- National High Technology Research and Development Program of China (863 Program) [2011AA02A112]
- National Natural Science Foundation of China [81101475]
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1p36 deletion (monosomy 1p36) is one of the most common terminal deletions observed in humans, characterized by special facial features, mental retardation, heart defects, development delay and epilepsy. Previously, we reported molecular findings in patients with limb, congenital heart disease (CHD) and other malformations with SNP-array. In a syndromic patient of the same cohort, we detected a small deletion of 1p36.33-p36.32 containing SKI (Sloan-Kettering Institute protooncoprotein). Recently, dominant mutations in SKI were identified to be correlated with Shprintzen-Goldberg syndrome. Retrospective examination revealed this patient with limb malformations, CHD, epilepsy and mild development delay. Together with previous reports, our study suggests that the 1p36.33-1p36.32 deletion encompassing SKI may represents a previous undescribed microdeletion disorder. (C) 2013 Elsevier B.V. All rights reserved.
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