[Osteogenesis imperfecta Type 1: a case presentation with a new mutation in gene COL1A1].
In a 4 year old girl the diagnosis osteogenesis imperfecta type I was suspected by following clinical criteria: four fractures after small trauma, intensive blue sclera, anomalies of dental enamel, macrocephalie with frontal bassing. Clinical diagnosis could be verified by moleculargenetic analysis, a newly recognized heterozygous point mutation (Arg420Stop) in the COL1A1-gene was found.
Siegert
T
T
Dr. von Haunersches Kinderspital der LMU München.
Klein
H-G
HG
Marschall
C
C
Schmidt
H
H
D016512:Ankle Injuries / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D003596:Cytosine / Q000378:metabolism; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005264:Femoral Fractures / Q000175:diagnosis / Q000235:genetics; D005500:Follow-Up Studies; D005598:Fractures, Spontaneous / Q000175:diagnosis / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D013941:Thymine / Q000378:metabolism; D013978:Tibial Fractures / Q000175:diagnosis / Q000235:genetics
D003062:Codon; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D003596:Cytosine; D013941:Thymine