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


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

ORPHANET JOURNAL OF RARE DISEASES, vol.10, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 10
  • Publication Date: 2015
  • Doi Number: 10.1186/s13023-015-0345-3
  • Title of Journal : ORPHANET JOURNAL OF RARE DISEASES

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.