19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype

Molecular Cytogenetics

Fernando Fernández-Ramírez²  Susana Kofman³  Alicia Cervantes³  Jaime Berumen¹  Laura Gómez-Laguna²  Alejandro Martínez-Herrera³  Karem Nieto-Martínez³  Carlos Venegas-Vega³ 

[1] Unidad de Medicina Genómica, Hospital General de México, Dr. Balmis 148, México 06726, D.F, México;Unidad de Genética, Hospital General de México, Dr. Balmis 148, México 06726, D.F, México;Facultad de Medicina, Universidad Nacional Autónoma de México, Av. Universidad 3000, México 04510, D.F, México

关键词: UBA2;    Chromosomal rearrangement;    19q13.11 microdeletion syndrome;   

Others  :  1162967
DOI  :  10.1186/s13039-014-0061-z

 received in 2014-04-26, accepted in 2014-08-26,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Venegas-Vega et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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