title: SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.
abstract: 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.
authors.affiliation: Institutes of Biomedical Sciences, Children's Hospital and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Yu
authors.initials: Y
authors.lastname: An
authors.forename: Sami S
authors.initials: SS
authors.lastname: Amr
authors.forename: Alcy
authors.initials: A
authors.lastname: Torres
authors.forename: Laura
authors.initials: L
authors.lastname: Weissman
authors.forename: Peter
authors.initials: P
authors.lastname: Raffalli
authors.forename: Gerald
authors.initials: G
authors.lastname: Cox
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Sheng
authors.forename: Va
authors.initials: V
authors.lastname: Lip
authors.forename: Weimin
authors.initials: W
authors.lastname: Bi
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.forename: Pawel
authors.initials: P
authors.lastname: Stankiewicz
authors.forename: Bai-Lin
authors.initials: BL
authors.lastname: Wu
authors.forename: Yiping
authors.initials: Y
authors.lastname: Shen
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D055751:SOXC Transcription Factors / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C546648:NRSN2 protein, human; C107423:SOX12 protein, human; D055751:SOXC Transcription Factors
keywords: 20p13; NRSN2; SOX12; developmental delay; microdeletion