Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel < b > < i > MASP1 < /i > < /b > Pathogenic Variant in a Male Patient

The 3MC syndrome is a rare autosomal recessive syndrome characterized by facial dysmorphism, multiple congenital abnormalities, and postnatal growth deficiency. Hypertelorism, blepharophimosis, blepharoptosis, high-arched eyebrows, and cleft lip/palate compose the facial gestalt, which is the key component for diagnosing the syndrome. Biallelic pathogenic variants inMASP1, COLEC11, andCOLEC10 are responsible for 3MC syndrome in which both genotypic and phenotypic heterogeneity is described. To date, 16 homozygous/compound heterozygous pathogenic variations in 27 patients from 22 families have been reported in theMASP1 gene associated with 3MC syndrome. Here, we report a male patient with a novel homozygous pathogenic variant inMASP1 in whom macrocephaly, pyloric stenosis, and prenatal findings including polyhydramnios, aortic dilatation, and intracranial cysts beside the distinctive facial features were detected. Reporting detailed clinical and molecular findings in patients is pivotal in terms of enabling the phenotypic and genotypic spectrum of this rare syndrome to be delineated.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research