PMID: 2121988Sep 1, 1990Paper

The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues

Journal of Medical Genetics
W G ColeJ F Bateman

Abstract

The features of a baby with lethal perinatal osteogenesis imperfecta (OI II), owing to a frameshift mutation that resulted in the production of a truncated and functionless carboxy terminal propeptide of the pro alpha 1(I) chain of type I procollagen, were studied. The baby (OI26) was heterozygous for an insertion of a single uridine nucleotide after base pair 4088 of the prepro alpha 1(I) mRNA of type I procollagen. Only normal type I collagen was incorporated into the extracellular matrix of bone and dermis resulting in a type I collagen content of about 20% of control tissues. The baby was born at 35 weeks' gestation and died shortly afterwards. He was small and had the radiographical features most like those of OI IIB. The skeleton was poorly ossified. The ribs were discontinuously beaded and the femora were broad with multiple healed fractures of the diaphyses and metaphyses. Other long bones had broad metaphyses with overmodelled diaphyses. The calvarium contained many hundreds of wormian bones. Histological examination showed grossly deficient endochondral and intramembranous ossification. The bone was of a woven type without evidence of lamellar bone or Haversian systems and the osteoblasts did not mature into osteocyte...Continue Reading

References

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Citations

Jul 1, 1992·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·K K Ho, A J Weissberger
Apr 3, 2001·BJOG : an International Journal of Obstetrics and Gynaecology·N Anim-NyameM R Johnson
Sep 21, 2001·BJOG : an International Journal of Obstetrics and Gynaecology·O OguehM R Johnson
May 30, 1998·Early Human Development·O OguehM R Johnson
Jun 15, 2011·Nature Reviews. Endocrinology·Antonella ForlinoJoan C Marini
Apr 1, 1995·Journal of Medical Genetics·W G Cole, R Dalgleish
Apr 3, 2021·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·H K DattaS P Tuck

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