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., ...Daha Fazla

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1186/s13023-015-0345-3
  • Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: 3MC syndrome, Complement, Lectin pathway, MASP-1, MASP-3
  • Marmara Üniversitesi Adresli: Evet

Özet

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.