Durmaz Ceren Damla, Altıner Şule
Department of Medical Genetics, University of Health Sciences, Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey.
Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Am J Med Genet A. 2021 Jul;185(7):2267-2270. doi: 10.1002/ajmg.a.62191. Epub 2021 Mar 25.
3MC syndrome is a rare condition manifesting with typical facial appearance, postnatal growth deficiency, skeletal manifestations, and genitourinary tract anomalies. 3MC is caused by biallelic pathogenic variants in MASP1, COLEC11, or COLEC10. Here, we report an affected subject of Kurdish origin from Turkey presenting with facial dysmorphisms, such as, hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows, umbilical hernia, and caudal appendage. These features were compatible with 3MC syndrome. Molecular analysis revealed a novel homozygous pathogenic variant, c.310C > T; p.Gln104Ter in the MASP1 gene, resulting in a premature stop codon. Few subjects with 3MC syndrome have been reported in the literature so far. Thus, detailed study of this subject contributes to the evolving clinical and genetic characterization of 3MC syndrome.
3MC综合征是一种罕见疾病，表现为典型的面部外观、出生后生长发育迟缓、骨骼表现以及泌尿生殖道异常。3MC是由MASP1、COLEC11或COLEC10基因的双等位基因致病性变异引起的。在此，我们报告一名来自土耳其的库尔德族患病个体，其表现出面部畸形，如眼距过宽、睑裂狭小、上睑下垂、眉弓高耸、脐疝和尾状附属物。这些特征与3MC综合征相符。分子分析揭示了MASP1基因中一个新的纯合致病性变异，即c.310C＞T；p.Gln104Ter，导致一个提前终止密码子。迄今为止，文献中报道的3MC综合征患者很少。因此，对该病例的详细研究有助于完善3MC综合征的临床和遗传学特征。
