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一名男孩中19q13.11微缺失伴发ins(2;19)(p25.3;q13.1q13.4)dn：UBA2在相关表型中的潜在作用

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.

作者信息

Venegas-Vega Carlos, Nieto-Martínez Karem, Martínez-Herrera Alejandro, Gómez-Laguna Laura, Berumen Jaime, Cervantes Alicia, Kofman Susana, Fernández-Ramírez Fernando

机构信息

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.

Facultad de Medicina, Universidad Nacional Autónoma de México, Av. Universidad 3000, México, D.F 04510 México.

出版信息

Mol Cytogenet. 2014 Dec 12;7(1):61. doi: 10.1186/s13039-014-0061-z. eCollection 2014.

DOI:10.1186/s13039-014-0061-z
PMID:25516771
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4266984/
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.

摘要

19q13.11微缺失综合征（MIM613026）是一种临床上可识别的病症，最近已描述了一个324 kb的最小重叠关键区域。然而，有人提出该区域之外的基因，如WTIP和UBA2，也与患者所观察到的临床特征有关。我们运用细胞遗传学技术、单核苷酸多态性阵列和定量聚合酶链反应，鉴定出1例源自新发染色体重排的2.49 Mb缺失的新病例。基于文献综述，我们支持UBA2单倍体不足可能导致这种罕见基因组疾病表型的观点。UBA2属于具有SUMO化活性的蛋白复合物，一些与脑和性发育相关的转录因子、激素受体及信号蛋白受这种翻译后修饰调控。需要更多的临床报告以及对UBA2分子功能进行进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dafc/4266984/62c7ddf9a1c1/13039_2014_61_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dafc/4266984/974cd8215dc3/13039_2014_61_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dafc/4266984/62c7ddf9a1c1/13039_2014_61_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dafc/4266984/974cd8215dc3/13039_2014_61_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dafc/4266984/62c7ddf9a1c1/13039_2014_61_Fig2_HTML.jpg

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本文引用的文献

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4
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