Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

Abstract

We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

“…Several new microdeletion and duplication syndromes have been delineated [1][2][3][4][5] since the introduction of high-resolution microarray techniques. Some of these give rise to clinically recognisable phenotypes such as 3q29 microdeletions, 6 15q24 microdeletions 7 and 17q21.31 deletions, 3 whereas others, such as deletions in 15q13.3 or 16p13.1, 8 are clinically more variable.…”

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

“…LHX1 has yet to be associated with disease in humans, and no single gene deletions, disruptions, or mutations causing haploinsufficiency have been detected. Contiguous gene disorders, such as the 16p11.2 deletion syndrome (OMIM 611913), also show considerable variability (Ballif et al, 2007), with a "second hit" possibly affecting severity. We sequenced LHX1 and we didn't find any mutations in this gene.…”

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

“…[1][2][3][4] Although some of the relatively larger CNVs have been associated with recognizable genomic disorders, [5][6][7][8][9][10][11][12] others have been implicated in causation of clinically overlapping neuro-developmental phenotypes, including autism spectrum disorders (ASDs), developmental delay (DD), and intellectual disability (ID). [13][14][15][16][17][18][19] More recently, smaller deletions or intragenic deletions disrupting a single gene have been associated with neurodevelopmental phenotypes.…”