Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

FRATTINI, A; PANGRAZIO, A; SUSANI, L; SOBACCHI, C; MIROLO, M; ABINUN, M; ANDOLINA, M; FLANAGAN, A; HORWITZ, EM; Mihci, ERCAN; NOTARANGELO, LD; RAMENGHI, U; TETI, A; VAN HOVE, J; VUJIC, D; YOUNG, T; ALBERTINI, A; ORCHARD, PJ; VEZZONI, P; VILLA, A

doi:10.1359/jbmr.2003.18.10.1740

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

FRATTINI A., PANGRAZIO A., SUSANI L., SOBACCHI C., MIROLO M., ABINUN M., ...Daha Fazla

JOURNAL OF BONE AND MINERAL RESEARCH, cilt.18, sa.10, ss.1740-1747, 2003 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 18 Sayı: 10
Basım Tarihi: 2003
Doi Numarası: 10.1359/jbmr.2003.18.10.1740
Dergi Adı: JOURNAL OF BONE AND MINERAL RESEARCH
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1740-1747
Anahtar Kelimeler: human osteopetrosis, osteoclasts, bone, marrow transplantation, Atp6a3, ClCN7, MALIGNANT INFANTILE OSTEOPETROSIS, BONE-RESORPTION, ASSOCIATION, SUBUNIT, DISEASE
Akdeniz Üniversitesi Adresli: Evet

Özet

Among 94 osteopetrotic patients presenting with a severe clinical picture and diagnosed early in life, 12 bore mutations in the ClCN7 gene, but only 7 of them had the expected two recessive mutations. The remaining five patients seem to be heterozygous for a ClCN7 mutation, and significant variations were observed in the clinical manifestations of their disease, even within the same family.