Key result
A novel heterozygous gain-of-function mutation (p.Val883Met) in the Npr2 gene causes an overgrowth disorder by constitutively generating excessive cGMP in chondrocytes.
Why the study?
Does a gain-of-function mutation in Npr2 cause excessive cGMP production and an overgrowth disorder?
Case Report (n=4)
Does a gain-of-function mutation in Npr2 cause excessive cGMP production and an overgrowth disorder?
A gain-of-function mutation in NPR2 causes excessive cGMP production and an overgrowth disorder, highlighting its critical role in skeletal growth.
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Supports NPR2 testing in unexplained overgrowth; leaves open therapeutic targeting of cGMP in chondrocytes.
Miura et al. (2012) conducted a case report in Overgrowth disorder (tall stature, scoliosis, macrodactyly) (n=4). Npr2 p.Val883Met mutation vs. Wild-type Npr2 (unaffected relatives and healthy controls) was evaluated on Identification of genetic mutation and functional assessment of cGMP production. A novel heterozygous gain-of-function mutation (p.Val883Met) in the Npr2 gene causes an overgrowth disorder by constitutively generating excessive cGMP in chondrocytes.
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