Genetic mutation and clinical features of osteogenesis imperfecta type V / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 797-801, 2017.
Artículo
en Chino
| WPRIM
| ID: wpr-344173
ABSTRACT
<p><b>OBJECTIVE</b>To explore genetic mutations and clinical features of osteogenesis imperfecta type V.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Osteogénesis Imperfecta
/
Diagnóstico por Imagen
/
Genética
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2017
Tipo del documento:
Artículo
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