The 19q13.11 microdeletion syndrome (MIM613026) is a clinically recognisable condition in which a 324-kb minimal overlapping critical region has been recently described. However, genes not included within this region, such as WTIP and UBA2, have been proposed to contribute to the clinical characteristics observed in patients. Using cytogenetic techniques, single nucleotide polymorphism arrays, and the quantitative polymerase chain reaction, we identified a novel case with a 2.49-Mb deletion derived from a de novo chromosomal rearrangement. Based on a review of the literature, we support the notion that UBA2 haploinsufficiency could contribute to the phenotype of this rare genomic disorder. UBA2 belongs to a protein complex with sumoylation activity, and several transcription factors, hormone receptors, and signalling proteins related to brain and sexual development are regulated by this post-translational modification. Additional clinical reports and further research on UBA2 molecular function are warranted.Electronic supplementary materialThe online version of this article (doi:10.1186/s13039-014-0061-z) contains supplementary material, which is available to authorized users.

J. Neurochem. (2011) 119, 697–707. Abstract Dp71 has an important role in the central nervous system. To better understand the function of Dp71 domains in neuronal differentiation, PC12 cells were stably transfected with a dystrophin mutant, Dp71Δ78‐79, which lacks exons 78 and 79. Based on the percentage of cells bearing neurites and neurite length analyses, we found that cells stably expressing Dp71Δ78‐79 (PC12‐C11) differentiate more efficiently than non‐transfected cells. While wild‐type cells reach their maximum differentiation 9–12 days after initiating the differentiation process, the PC12‐C11 cells reach differentiation in 4–6 days. Protein expression analysis showed a down‐regulation of Dp71a and an up‐regulation of Dp71ab and/or Up71, β‐dystroglycan and neuron‐specific enolase in undifferentiated and in neural growth factor differentiated PC12‐C11 cells. No change was observed in the expression of Grb2 and Up400. The subcellular localization of Dp71Δ78‐79 was in the cell periphery, and there was no change in localization during the differentiation process, which was also observed throughout the neurite extensions.

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