A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

[dentinogenesis imperfecta]

Osteogenesis imperfect (OI ) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation , accompanied by short stature , dentinogenesis imperfecta , hyperlaxity of ligaments and skin , blue sclerae and hearing loss . Dominant form of OI is caused by mutations in the type I procollagen genes , COL 1 A 1 /A 2 . Here we identified a novel splicing mutation c .3207 +1 G >A (GenBank ID : JQ 236861 ) in the COL 1 A 1 gene that caused type I OI in a Chinese family . RNA splicing analysis proved that this mutation created a new splicing site at c .3200 , and then led to frameshift . This result further enriched the mutation spectrum of type I procollagen genes .

Diseases
Validation

Diseases presenting "hearing loss" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

benign recurrent intrahepatic cholestasis

canavan disease

cohen syndrome

congenital toxoplasmosis

dentinogenesis imperfecta

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

neonatal adrenoleukodystrophy

pendred syndrome

von hippel-lindau disease

wolf-hirschhorn syndrome

This symptom has already been validated