Results: 5

1.
Figure 1

Figure 1. From: A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

Pedigree of the Turkish family. Arrow indicates proband (patient 1, IV-2).

Beyhan Tuysuz, et al. Eur J Hum Genet. 2009 May;17(5):565-572.
2.
Figure 3

Figure 3. From: A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

Radiographs of proband (IV-2) and affected sibling. (a) Wide metacarpal bones with irregular contours especially in the fourth and the fifth fingers bilaterally. (b) Symmetric osteolytic areas in the metatarsal bones and first phalanges of the halluces. (c) Radiographs of deceased older sister (IV-1) of patient 1. Note the width of the metacarpal bones and phalanges with camptodactyly of the second and third finger of the left hand and the second finger of the right hand.

Beyhan Tuysuz, et al. Eur J Hum Genet. 2009 May;17(5):565-572.
3.
Figure 2

Figure 2. From: A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

Patient 1 (IV-2) at age 6 years. (a) Note the mild hypertelorism and antimongoloid axis, strabismus, bulbous nose, large ears, small chin, and (b) gingival hypertrophy. (c) Fusiform painful swellings on all fingers and camptodactyly of the fourth finger of the left hand and the fifth finger of the right hand. (d and e) Fixed hyperextension of the halluces; palmar and plantar subcutaneous nodules are indicated by arrows.

Beyhan Tuysuz, et al. Eur J Hum Genet. 2009 May;17(5):565-572.
4.
Figure 5

Figure 5. From: A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

Frameshift mutation results in the loss of MMP-2 activity. (a) Chromatogram showing the 1732delA frameshift mutation as homozygous in the affected and heterozygous in parents of Patient. (b) Gelatin zymogram shows complete loss of MMP-2 activity in affected serum, 50% activity in that from parents, and 100% activity in noncarrier sibling and population-control serum samples. (c) Structural model of the MMP-2 mutation was based on the coordinates of the wild-type protein (PDB ID 1CK7). Yellow represents the amino portion of the molecule that is expressed before the deletion, whereas the purple C-terminal 83 amino acids are deleted in the truncation. The orange ball represents the zinc ion required for activity of the metalloprotease. Rendering was done using the program O v.12 (courtesy of Dr Alwyn Jones, University of Uppsala, Uppsala, Sweden).

Beyhan Tuysuz, et al. Eur J Hum Genet. 2009 May;17(5):565-572.
5.
Figure 4

Figure 4. From: A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

Patient 2 (IV-6) at age 4 years. (a) Note the bilateral mild proptosis and hypertelorism, thick lips, full cheeks, micrognathia, bulbous nose, large ears, and (b) gingival hypertrophy with high narrow palate. (c) Deformed feet with foreshortening of all toes with hyperextension of the fifth toe of the left foot and second toe of the right foot were present. (d) All fingers had painful fusiform swellings with hyperextension of the metacarpophalangeal joints and flexion contractures of the interphalangeal joints. (e) Radiographs showing carpal and metacarpal osteolysis associated with severe interphalangeal joint destruction and erosions. (f) Palmar and plantar subcutaneous nodules (indicted by arrows). (g) Radiographs showing tarsal osteolysis associated with severe interphalangeal joint destruction and erosions. (h) Note the broad medial ends of the clavicles indicated by arrowheads.

Beyhan Tuysuz, et al. Eur J Hum Genet. 2009 May;17(5):565-572.

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