Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
Multiple epiphyseal dysplasia (MED) is characterized by pain and stiffness in joints and delayed and irregular ossification of epiphyses. Causative mutations have been recognized in six different genes. We have identified disease-causing mutations in the gene encoding matrilin-3, an extracellular matrix protein, in seven families with autosomal dominant MED. Review of the clinical and radiographic features in 12 of the affected family members shows a uniform pattern of skeletal anomalies in all patients with considerable degree of variability in severity, both between and within families. The characteristic clinical findings are onset of symptoms in early childhood with predominance of knee and hip related complaints, normal stature, and early-onset osteoarthritis. Radiographs show small and irregular epiphyses and mild metaphyseal irregularities and striations, especially at the knees and hips and mild spinal changes. Despite overlap, both clinically and radiographically, with other forms of MED, the described features may help to differentiate this particular form from other entities within the MED spectrum.
Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. outi.makitie@helsinki.fi
Outi
O
Mäkitie
Geert R
GR
Mortier
Malwina
M
Czarny-Ratajczak
Michael J
MJ
Wright
Mohnish
M
Suri
Piotr
P
Rogala
Margarida
M
Freund
Gail C
GC
Jackson
Eveliina
E
Jakkula
Leena
L
Ala-Kokko
Michael D
MD
Briggs
William G
WG
Cole
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics*; D010641:Phenotype; D011859:Radiography
D016326:Extracellular Matrix Proteins; D064235:Matrilin Proteins