Human Molecular Genetics, Vol 6, 571-576, Copyright © 1997 by Oxford University Press
J Nakae, T Tajima, T Sugawara, F Arakane, K Hanaki, T Hotsubo, N Igarashi, Y Igarashi, T Ishii, N Koda, T Kondo, H Kohno, Y Nakagawa, K Tachibana, Y Takeshima, K Tsubouchi, JF Strauss 3rd and K Fujieda
Genomic DNA from 19 Japanese patients with congenital lipoid adrenal
hyperplasia (lipoid CAH) representing 16 different families was examined to
identify the genetic alterations of steroidogenic acute regulatory protein
(StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY
karyotype. Six of the 46,XX patients have experienced spontaneous pubertal
changes including breast development and irregular menstruation whereas
none of the 46,XY subjects displayed pubertal changes. Eight different
mutations were identified. Sixteen patients were either homozygotes or
compound heterozygotes for the Q258X mutation. The seven other mutations
identified were 189delG, 246insG, 564del13bp, 838delA, Q212X, A218V and
M225T. The 189delG, 246insG, 546del13bp and Q212X mutants encode truncated
proteins. COS-1 cells transfected with expression vectors encoding cDNAs
for the mutant StAR proteins which affect the C-terminus, 838delA, A218V
and Q258X, exhibited no steroidogenesis enhancing activity. However, the
M225T mutant retained some steroidogenic activity. The patient with the
M225T mutation had late onset of this disorder and some capacity to secrete
testosterone in response to hCG. These findings suggest: (i) that the Q258X
mutation can be used as a genetic marker for the screening of Japanese for
lipoid CAH, (ii) that the C-terminus of StAR plays an important role in the
protein's activity and (iii) that there are differences in the extent of
functional impairment of the testis and ovaries in lipoid CAH.
ARTICLES
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
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