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SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay
Author(s) -
An Yu,
Amr Sami S.,
Torres Alcy,
Weissman Laura,
Raffalli Peter,
Cox Gerald,
Sheng Xiaoming,
Lip Va,
Bi Weimin,
Patel Ankita,
Stankiewicz Pawel,
Wu BaiLin,
Shen Yiping
Publication year - 2013
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.32187
Subject(s) - subtelomere , candidate gene , genetics , biology , gene , microarray , microarray analysis techniques , telomere , gene expression
20p13 telomeric/subtelomeric deletions are clinically significant but are currently under‐investigated. So far only five molecularly delineated cases have been reported in literature and no candidate genes have been sufficiently implicated. Here, we present six new deletion cases identified by chromosomal microarray analysis (CMA). We also review 32 cases combined from literature and databases. We found that most 20p13 deletion patients exhibit significant developmental delay. Dysmorphic features are common but a consistent pattern was not recognized. Reduced cognitive ability was frequent. Based on pathogenic deletions delineated in this study, we mapped the smallest overlapping region and identified two nervous system expressing genes ( SOX12 and NRSN2 ) as candidate genes that may be involved in the developmental defects in 20p13 microdeletion. © 2013 Wiley Periodicals, Inc.