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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Melnick-Needles syndrome


Other Names for this Disease
  • Melnick-Needles osteodysplasty
  • MNS
  • Osteodysplasty of Melnick and Needles
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Cause


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What causes Melnick-Needles syndrome?

Melnick-Needles syndrome is caused by a change (mutation) in the FLNA gene. When the FLNA gene is working correctly, it provides instructions for producing a protein called filamin A, which is needed to help other proteins and to give structure to cells and allow them to change shape and move. When the FLNA gene has a mutation that causes Melnick-Needles syndrome, the mutation instructs the cell to enhance the activity of the filamin A protein or give the protein a new function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of Melnick-Needles syndrome.[1]

Last updated: 11/3/2010

References
  1. Melnick-Needles syndrome. Genetics Home Reference. November 2007; http://ghr.nlm.nih.gov/condition/melnick-needles-syndrome. Accessed 11/2/2010.