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

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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, 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
• Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
• İstanbul Üniversitesi-Cerrahpaşa Adresli: Hayır

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.