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A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome.
|Title||A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome.|
|Publication Type||Journal Article|
|Year of Publication||2005|
|Authors||Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA|
|Journal||American journal of medical genetics. Part A|
|Date Published||2005 May 15|
Keutel syndrome (KS) [OMIM 245150] is a rare autosomal recessive condition, characterized by abnormal cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been previously reported in three unrelated KS families. MGP is an extracellular matrix protein that acts as a calcification inhibitor by repressing bone morphogenetic protein 2 (BMP2). Loss-of-function mutations of MGP result in abnormal calcification of the soft tissues, a cardinal feature of KS. We report the fourth MGP mutation (IVS2 + 1G > A) in a consanguineous Arab family, which results in the loss of the consensus donor splice site at the exon 2-intron 2 junction. In addition to the typical manifestations, we observed abnormalities in the white matter of the brain, optic nerve atrophy, and mid-dermal elastolysis in the affected individuals of this family. This report broadens the clinical phenotype observed in patients with KS. The effect of the IVS2 + 1G > A mutation is consistent with the previously reported loss-of-function mutations of MGP.
|Alternate Journal||Am. J. Med. Genet. A|