Abstract
LEOPARD syndrome is a rare hereditary disease characterized by several congenital defects in multiple organs, including sensorineural hearing impairment. LEOPARD syndrome is caused by mutations in the PTPN11 gene, and different PTPN11 mutations are associated with different clinical features. Cochlear implantation (CI) can potentially benefit LEOPARD syndrome patients with profound sensorineural hearing impairment. The CI outcomes in LEOPARD syndrome patients are influenced by the PTPN11 genotypes, because different PTPN11 mutations confer different pathogenicity on neurocognitive development. Genetic testing is of prognostic value in the management of LEOPARD syndrome.
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