MASP1‐related 3MC syndrome in a patient from Turkey

• Published in: American journal of medical genetics. Part A Vol. 185; no. 7; pp. 2267 - 2270
• Main Authors: Durmaz, Ceren Damla, Altıner, Şule
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.07.2021; Wiley Subscription Services, Inc
• Subjects: 3MC syndrome; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Blepharophimosis; Blepharophimosis - genetics; Blepharophimosis - pathology; Blepharoptosis - genetics; Blepharoptosis - pathology; Cleft Lip - genetics; Cleft Lip - pathology; Cleft Palate - genetics; Cleft Palate - pathology; Collectins - genetics; Craniofacial Abnormalities - genetics; Craniofacial Abnormalities - pathology; Craniosynostoses - genetics; Craniosynostoses - pathology; Eye Abnormalities - genetics; Eye Abnormalities - pathology; facial dysmorphism; Genitourinary tract; Hernia; Humans; Hypertelorism - genetics; Hypertelorism - pathology; Infant; Male; Mannose-Binding Protein-Associated Serine Proteases - genetics; MASP; MASP-1 protein; multiple congenital anomalies; Muscular Atrophy - genetics; Muscular Atrophy - pathology; Nonsense mutation; Physical growth; rare disease; Stop codon; Turkey - epidemiology; Turkey; 3MC syndrome; multiple congenital anomalies; MASP; rare disease; facial dysmorphism
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.62191

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.