Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indica...

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Veröffentlicht in:Pediatric and developmental pathology 2011-05, Vol.14 (3), p.228-234
Hauptverfasser: van Dijk, Fleur S., Nikkels, Peter G.J., den Hollander, Nicolette S., Nesbitt, Isabel M., van Rijn, Rick R., Cobben, Jan M., Pals, Gerard
Format: Artikel
Sprache:eng
Schlagworte:
Bone and Bones - pathology
DNA Mutational Analysis
Family
Female
Humans
Infant, Newborn
Male
Membrane Glycoproteins - genetics
Mutation
Osteogenesis Imperfecta - genetics
Osteogenesis Imperfecta - pathology
Pedigree
Proteoglycans - genetics
Reverse Transcriptase Polymerase Chain Reaction
Turkey
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Zusammenfassung:We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indicate that the histology of LEPRE1 -associated OI is indistinguishable from COL1A1/2-, CRTAP-, and PPIB-related OI.
ISSN:1093-5266
1615-5742
DOI:10.2350/10-03-0806-CR.1