Clinical Comparison of Overlapping Deletions of 19p13.3

2013-05-02 15:13:24

American Journal of Medical Genetics Part A; 2013 Apr 22; 161(5):1110-16

Hiba Risheg, Romela Pasion, Stephanie Sacharow, Virginia Proud, LaDonna Immken, Stuart Schwartz, Jim H. Tepperberg, Peter Papenhausen, Tiong Y. Tan, Joris Andrieux, Ghislaine Plessis, David J. Amor, Elisabeth A. Keitges


We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray analysis. All three had a similar phenotype characterized by intellectual disability or developmental delay, structural heart abnormalities, large head relative to height and weight or macrocephaly, and minor facial anomalies. Deletion sizes ranged from 792Kb to 1.0Mb and included a common region arr [hg19] 19p13.3 (3,814,392–4,136,989), containing eight genes: ZFR2, ATCAY, NMRK2, DAPK3, EEF2, PIAS4, ZBTB7A, MAP2K2, and two non-coding RNA's MIR637 and SNORDU37. The patient phenotypes were compared with three previous single patient reports with similar interstitial 19p13.3 deletions and six additional patients from the DECIPHER and ISCA databases to determine if a common haploinsufficient phenotype for the region can be established.

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