Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
ORPHANET JOURNAL OF RARE DISEASES, cilt.10, 2015 (SCI-Expanded, Scopus)
- 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
- Acıbadem Mehmet Ali Aydınlar 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.