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We analyzed the steroidogenic acute regulatory protein (StAR) gene in a Japanese patient with congenital lipoid adrenal hyperplasia (CLAH). The patient was revealed to be a compound heterozygote bearing a missense mutation A218V, which changed codon 218 (GCG) encoding Ala to GTG encoding Val in the StAR gene, and a nonsense mutation Q258X, which changed codon 258 (CAG) encoding Gln to the stop codon (TAG), by polymerase chain reaction amplification and direct sequencing of the StAR gene. The Q258X mutation has been demonstrated to cause CLAH in Japanese and Korean patients. The A218V mutation has been reported to cause CLAH in a Canadian white patient. These findings suggest that the amino acid residue Ala218 is important for the normal StAR function, and the codon 218 might be a hotspot for the StAR gene mutation.

clinical pediatric endocrinology

Detection of the Missense Mutation A218V in the Steroidogenic Acute Regulatory Protein Gene of a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia