[Genetic mutation and clinical features of osteogenesis imperfecta type V].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(6): 797-801, 2017 Dec 10.
Article
em Zh
| MEDLINE
| ID: mdl-29188603
ABSTRACT
OBJECTIVE:
To explore genetic mutations and clinical features of osteogenesis imperfecta type V.METHODS:
Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as well as healthy controls were collected. Mutation of IFITM5 gene was identified by PCR amplification and Sanger sequencing.RESULTS:
A heterozygous mutation (c.-14C>T) in the 5-UTR of the IFITM5 gene was identified in all of the patients and one mother. The clinical findings included frequent fractures and spine and/or extremities deformities, absence of dentinogenesis imperfecta, absence of hearing impairment, and blue sclera in 1 case. Radiographic findings revealed calcification of the interosseous membrane between the radius-ulna in all cases. Hyperplastic callus formation was found in 3 cases. Four had radial-head dislocation.CONCLUSION:
A single heterozygous mutation c.-14C>T was found in the 5-UTR of the IFITM5 gene in 5 patients with osteogensis imperfecta type V. The patients showed specific radiological features including calcification of interosseous membrane, hyperplastic callus formation, and radial-head dislocation.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Osteogênese Imperfeita
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
Zh
Ano de publicação:
2017
Tipo de documento:
Article