Breckpot Jeroen, Anderlid Britt-Marie, Alanay Yasemin, Blyth Moira, Brahimi Afane, Duban-Bedu Bénédicte, Gozé Odile, Firth Helen, Yakicier Mustafa Cengiz, Hens Greet, Rayyan Maissa, Legius Eric, Vermeesch Joris Robert, Devriendt Koen
Center for Human Genetics, University Hospitals Leuven and Department of Human Genetics, KU Leuven, Leuven, Belgium.
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Eur J Hum Genet. 2016 Jan;24(1):51-8. doi: 10.1038/ejhg.2015.65. Epub 2015 May 6.
We report on seven novel patients with a submicroscopic 22q12 deletion. The common phenotype constitutes a contiguous gene deletion syndrome on chromosome 22q12.1q12.2, featuring NF2-related schwannoma of the vestibular nerve, corpus callosum agenesis and palatal defects. Combining our results with the literature, eight patients are recorded with palatal defects in association with haploinsufficiency of 22q12.1, including the MN1 gene. These observations, together with the mouse expression data and the finding of craniofacial malformations including cleft palate in a Mn1-knockout mouse model, suggest that this gene is a candidate gene for cleft palate in humans.
我们报告了7例患有亚微观22q12缺失的新病例。常见表型为22q12.1q12.2染色体上的连续性基因缺失综合征，其特征为与NF2相关的前庭神经鞘瘤、胼胝体发育不全和腭裂。将我们的结果与文献相结合，记录到8例与22q12.1单倍剂量不足相关的腭裂患者，其中包括MN1基因。这些观察结果，连同小鼠表达数据以及在Mn1基因敲除小鼠模型中发现的包括腭裂在内的颅面畸形，表明该基因是人类腭裂的候选基因。
