Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI.
Fetal Pediatr Pathol
; 35(5): 353-358, 2016.
Article
en En
| MEDLINE
| ID: mdl-27362741
ABSTRACT
Osteogenesis imperfecta (OI) is a set of clinically and genetically heterogeneous disorders with autosomal dominant, recessive and X-linked inheritance patterns. The aim of this study was to describe a novel genetic abnormality in a case of OI type XI with mild joint contractures, kyphoscoliosis, muscular atrophy, progressively deforming and multiple bone fractures in a consanguineous Iranian family. Based on the phenotype, investigation of two candidate genes, CRTAP (OI type VII) and FKBP10 (OI type XI) detected a novel homozygous frameshift mutation in the FKBP10 gene. This finding can be useful in accurate genetic counseling and prioritization of molecular analysis of OI in Iranian patients.
Palabras clave
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Osteogénesis Imperfecta
/
Proteínas de Unión a Tacrolimus
Límite:
Child
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Fetal Pediatr Pathol
Asunto de la revista:
PATOLOGIA
/
PEDIATRIA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Irán