Article
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
Orphanet journal of rare diseases - 30 Sept 2015
Atik Tahir, Koparir Asuman, Bademci Guney, Foster Joseph, Altunoglu Umut, Mutlu Gül Yesiltepe, Bowdin Sarah, Elcioglu Nursel, Tayfun Gulsen A, Atik Sevinc Sahin, Ozen Mustafa, Ozkinay Ferda, Alanay Yasemin, Kayserili Hulya, Thiel Steffen, Tekin Mustafa
Abstract excerpt
BACKGROUND: 3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical, and sacral anomalies. Five mutations in MASP1, encoding lectin complement pathway enzymes MASP-1 and MASP-3, have thus far been reported to cause 3MC1 syndrome. Only one previously reported mutation affects both MASP-1 and MASP-3, while the other mutations...
Topics
- Abnormalities, Multiple
- Adolescent
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Male
- Mannose-Binding Protein-Associated Serine Proteases
- Mutation
- Phenotype
- Syndrome
- Young Adult