title: 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.
abstract: 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.
authors.affiliation: Unidad de Genética, Hospital General de México, Dr. Balmis 148, México, D.F 06726 México ; Facultad de Medicina, Universidad Nacional Autónoma de México, Av. Universidad 3000, México, D.F 04510 México.
authors.forename: Carlos
authors.initials: C
authors.lastname: Venegas-Vega
authors.affiliation: Facultad de Medicina, Universidad Nacional Autónoma de México, Av. Universidad 3000, México, D.F 04510 México.
authors.forename: Karem
authors.initials: K
authors.lastname: Nieto-Martínez
authors.affiliation: Facultad de Medicina, Universidad Nacional Autónoma de México, Av. Universidad 3000, México, D.F 04510 México.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Martínez-Herrera
authors.affiliation: Unidad de Genética, Hospital General de México, Dr. Balmis 148, México, D.F 06726 México.
authors.forename: Laura
authors.initials: L
authors.lastname: Gómez-Laguna
authors.affiliation: Facultad de Medicina, Universidad Nacional Autónoma de México, Av. Universidad 3000, México, D.F 04510 México ; Unidad de Medicina Genómica, Hospital General de México, Dr. Balmis 148, México, D.F 06726 México.
authors.forename: Jaime
authors.initials: J
authors.lastname: Berumen
authors.affiliation: Unidad de Genética, Hospital General de México, Dr. Balmis 148, México, D.F 06726 México ; Facultad de Medicina, Universidad Nacional Autónoma de México, Av. Universidad 3000, México, D.F 04510 México.
authors.forename: Alicia
authors.initials: A
authors.lastname: Cervantes
authors.affiliation: Unidad de Genética, Hospital General de México, Dr. Balmis 148, México, D.F 06726 México ; Facultad de Medicina, Universidad Nacional Autónoma de México, Av. Universidad 3000, México, D.F 04510 México.
authors.forename: Susana
authors.initials: S
authors.lastname: Kofman
authors.affiliation: Unidad de Genética, Hospital General de México, Dr. Balmis 148, México, D.F 06726 México.
authors.forename: Fernando
authors.initials: F
authors.lastname: Fernández-Ramírez
keywords: 19q13.11 microdeletion syndrome; Chromosomal rearrangement; UBA2