Identification of gene mutations associated with congenital lipoid adrenal hyperplasia

摘要

Method for diagnosis of congenital lipoid adrenal hyperplasia and for the detection of the presence of a mutated gene for steroidogenesis acute regulatory protein (StAR) by analyzing nucleic acid obtained from a patient. The nucleic acid can be analyzed by restriction fragment length polymorphism analysis, nucleic acid hybridization, or nucleotide sequencing, among other techniques. A mutation may result in premature termination of the protein, or it may result in the StAR gene not being transcribed or translated, or it may result in a change in the amino acid sequence of the StAR gene product.