A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.

[dentinogenesis imperfecta]

Osteogenesis imperfecta (OI ), also known as brittle bone disease , characterized by multiplicative osteopsathyrosis , blue sclera , dentinogenesis imperfecta and mild audition , is a rare inherited connective tissue disease . There are seven types of OI , I to VII , among which type I -IV are relatively common and associated with type I collagen . Defects in type I collagen synthesis or structure are responsible for the majority of clinical OI cases since collagen is the major matrix protein of all connective tissues . Type I collagen consists of two pro-Î±1 chains and one pro-Î±2 chain , which are encoded by two genes , COL 1 A 1 and COL 1 A 2 , respectively . The two subunits have a Gly-X-Y repeat domain , of which glycine is highly conserved in the majority of species . Point mutations on these sites appear to trigger OI . In the current study , a heterozygous mutation , c .3263 G >A , p .Gly 1088 Glu , was identified in the Gly-X-Y domain of type I collagen in an affected individual with type I OI . A lethal phenotype with the p .Gly 1088 A la mutation was observed at the same site as the current findings . This suggests that variant characteristics of the substitution for Gly may trigger a varying degree of OI from lethal to mild , even when the mutation occurs at the same site . It is hypothesized that the study may provide insight into the phenotype-genotype association and may assist , not only in the clinical diagnosis , but also in investigating the mechanism of collagen-associated diseases .

Diseases
Validation

Diseases presenting "characterized by multiplicative osteopsathyrosis" symptom

dentinogenesis imperfecta

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