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Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta

✍ Scribed by Monica Mottes; M. Gomez Macarena Lira; Maurizia Valli; Gioacchino Scarano; Fortunato Lonardo; Antonella Forlino; Giuseppe Cetta; Pier Franco Pignatti

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
776 KB
Volume
2
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Peter H. Byers We describe a dominant point mutation in the C O L l A l gene causing extremely severe osteogenesis imperfecta (01 type IMII) which was detected in the dermal fibroblasts of a proband, diagnosed by ultrasonography at 24 weeks of gestation. Type I collagen secretion was reduced and procul(1) chains were overmodified. The mutation was localised in one C O L l A l allele by chemical cleavage of mismatched bases in normal cDNNproband's mRNA heteroduplexes, and identified by cloning and sequencing. A G-to-A transition which causes the substitution of Gly-415 with serine in the cul(1) triple helical domain was found. The same mutation was detected in the father's spermatozoa and lymphocytes. Mosaicism in the father's germline explains the Occurrence in the family of two additional 01 pregnancies, which were documented by X-ray and ultrasound investigations.

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