Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively
نویسندگان
چکیده
منابع مشابه
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.
Osteogenesis imperfecta (OI), also known as brittle bone disease, characterized by multiplicative osteopsathyrosis, blue sclera, dentinogenesis imperfecta and mild audition, is a rare inherited connective tissue disease. There are seven types of OI, I to VII, among which type I-IV are relatively common and associated with type I collagen. Defects in type I collagen synthesis or structure are re...
متن کاملRecurrence risks and prognosis in severe sporadic osteogenesis imperfecta.
A study was carried out in the United Kingdom of patients with severe osteogenesis imperfecta (OI), born with fractures to normal parents, in order to determine recurrence risks. A total of 105 cases from 98 families survived the perinatal period and 60 cases from 57 families were stillborn or died during the first week of life. The majority of the perinatal survivors correspond to the overlapp...
متن کاملDeficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous brittle bone disorder. Whereas dominant OI is mostly due to heterozygous mutations in either COL1A1 or COL1A2, encoding type I procollagen, recessive OI is caused by biallelic mutations in genes encoding proteins involved in type I procollagen processing or chaperoning. Hitherto, some OI cases remain molecularly unexplai...
متن کاملBone formation markers in adults with mild osteogenesis imperfecta.
BACKGROUND Plasma concentrations of procollagen peptides are decreased in osteogenesis imperfecta (OI), whereas other bone formation markers may be increased. We examined the utility of combining these markers in the diagnosis of OI in adults. METHODS We measured plasma concentrations of procollagen-1 N-peptide (P1NP), osteocalcin, and bone alkaline phosphatase in 24 patients with nondeformin...
متن کاملMutation Identification in COL1A1 in Mild Osteogenesis Imperfecta
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder characterized by bone fragility. Most cases of severe OI result from mutations in the coding region of the COL1A1 or COL1A2 genes yielding an abnormal collagen a chain. In contrast, many patients with mild OI show evidence of a null allele due to a premature stop mutation in the mutant RNA transcript. We have previously desc...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2017
ISSN: 1098-3600,1530-0366
DOI: 10.1038/gim.2017.115