X-Linked dominant disorders of cholesterol biosynthesis in man and mouse.

摘要: The X-linked dominant male-lethal mouse mutations tattered and bare patches are homologous to human chondrodysplasia punctata CHILD syndrome, rare skeletal dysplasias. These disorders also affect the skin can cause cataracts microphthalmia in surviving, affected heterozygous females. They have recently been shown result from genes encoding enzymes involved sequential steps conversion of lanosterol cholesterol. This review will summarize clinical features describe recent biochemical molecular investigations that resulted elucidation their metabolic pathway. Finally, speculations about possible mechanisms pathogenesis be provided.