MASP1-related 3MC syndrome in a patient from Turkey

Durmaz Ceren Damla; Altiner Sule

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MASP1-related 3MC syndrome in a patient from Turkey

机译：MASP1相关的3MC综合征在来自土耳其的患者中

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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.

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《American journal of medical genetics, Part A》 |2021年第7期|共4页
作者
Durmaz Ceren Damla; Altiner Sule;
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作者单位

Univ Hlth Sci Gazi Yasargil Training &

Res Hosp Dept Med Genet Diyarbakir Turkey;

Univ Hlth Sci Kanuni Training &

Res Hosp Dept Med Genet Trabzon Turkey;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
3MC syndrome; facial dysmorphism; MASP; multiple congenital anomalies; rare disease;

机译：3MC综合征;面部困难术;捣乱;多个先天性异常;罕见疾病;

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MASP1-related 3MC syndrome in a patient from Turkey

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