A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta.

[dentinogenesis imperfecta]

Osteogenesis imperfecta is a heterogeneous genetic disorder characterized by bone fragility and deformity , recurrent fractures , blue sclera , short stature , and dentinogenesis imperfecta . Most cases are caused by mutations in COL 1 A 1 and COL 1 A 2 genes . We present a novel splicing mutation in the COL 1 A 1 gene (c .1875 +1 G >C ) in a 16 -year -old Brazilian boy diagnosed as a type III osteogenesis imperfecta patient . This splicing mutation and its association with clinical phenotypes will be submitted to the reference database of COL 1 A 1 mutations , which has no other description of this mutation .

Diseases
Validation

Diseases presenting "short stature" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aromatase deficiency

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital adrenal hyperplasia

cowden syndrome

dentin dysplasia

dentinogenesis imperfecta

fabry disease

hirschsprung disease

holt-oram syndrome

kabuki syndrome

kallmann syndrome

kindler syndrome

monosomy 21

oculocutaneous albinism

oligodontia

omenn syndrome

proteus syndrome

werner syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated