Uliana Vera, Grosso Salvatore, Cioni Maddalena, Ariani Francesca, Papa Filomena T, Tamburello Silvia, Rossi Elisa, Katzaki Eleni, Mucciolo Mafalda, Marozza Annabella, Pollazzon Marzia, Mencarelli Maria Antonietta, Mari Francesca, Balestri Paolo, Renieri Alessandra
Medical Genetics, University of Siena, Italy.
Eur J Med Genet. 2010 May-Jun;53(3):168-70. doi: 10.1016/j.ejmg.2010.02.003. Epub 2010 Feb 26.
We report a patient with mental retardation, epilepsy, overgrowth, delayed bone age, peculiar facial features, corpus callosum hypoplasia, enlarged cisterna magna and right cerebellar hypoplasia. Array-CGH analysis revealed the presence of a de novo 3.2 Mb interstitial deletion of the long arm of chromosome 7 involving bands q22.2-q22.3. The rearrangement includes 15 genes and encompasses a genomic region that represents a site of frequent loss of heterozygosity in myeloid malignancies. Four genes are implicated in the control of cell cycle: SRPK2, MLL5, RINT1 and LHFPL3. Haploinsufficiency of these genes might therefore be associated with overgrowth and could confer susceptibility to cancers or other tumours, so that attention to this possibility would be appropriate during regular medical review. In conclusion, array-CGH analysis should be performed in patients with overgrowth where the known causes have already been excluded, because some still unclassified overgrowth syndromes may be caused by subtle genomic imbalances.
我们报告了一名患有智力发育迟缓、癫痫、身材过度生长、骨龄延迟、特殊面部特征、胼胝体发育不全、枕大池扩大和右侧小脑发育不全的患者。阵列比较基因组杂交（Array-CGH）分析显示，7号染色体长臂存在一个3.2 Mb的新发间质性缺失，涉及q22.2-q22.3带。该重排包括15个基因，涵盖一个在髓系恶性肿瘤中经常发生杂合性缺失的基因组区域。四个基因参与细胞周期的调控：SRPK2、MLL5、RINT1和LHFPL3。因此，这些基因的单倍剂量不足可能与身材过度生长有关，并可能使人易患癌症或其他肿瘤，所以在定期医学检查时关注这种可能性是合适的。总之，对于身材过度生长且已知病因已被排除的患者，应进行阵列比较基因组杂交分析，因为一些尚未分类的身材过度生长综合征可能是由细微的基因组失衡引起的。
