Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Atik T., Koparir A., Bademci G., Foster J., Altunoglu U., MUTLU G. A., ...More

ORPHANET JOURNAL OF RARE DISEASES, vol.10, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 10
  • Publication Date: 2015
  • Doi Number: 10.1186/s13023-015-0345-3
  • Journal Name: ORPHANET JOURNAL OF RARE DISEASES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: 3MC syndrome, Complement, Lectin pathway, MASP-1, MASP-3
  • Kocaeli University Affiliated: No

Abstract

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 affect only MASP-3.