Publikasi Scopus FKUI Tahun 2010 s/d 2020 (data Per 3 Februari 2021)

Marzuki N.S., Suciati L.P., Dewi M., Tridjaja B.
37111053300;37111425600;57211349415;6504507193;
Two novel mutations of SRD5A2 gene in indonesian siblings with clinical 5-alpha-reductase deficiency
2010
Journal of Pediatric Endocrinology and Metabolism
23
12
1329
1333
6
Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Department of Child Health, Faculty of Medicine, University of Indonesia, Indonesia
Marzuki, N.S., Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Suciati, L.P., Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Dewi, M., Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Tridjaja, B., Department of Child Health, Faculty of Medicine, University of Indonesia, Indonesia
Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder with clinical spectrum ranges from a male phenotype with hypospadia to a female phenotype with normal wolffian structures. Over 50 different mutations of SRD5A2 gene has been described in affected patients and several mutations were detected in specific populations. DNAs of two 46,XY DSD Indonesian siblings, aged 13 and 18 years old, with clinically suspected of 5-alpha-reductase deficiency and their mother were analysed for molecular defects of SRD5A2 gene. Different from other reports, in our series three mutations were found in each patient. Two novel mutations were detected in these patients and their mother, which are p.Gly34fs and c.699-1G>T. The other mutation detected was c.680G>A or p.Arg227Gln, which commonly described in Far East Asian population. Whether the p.Arg227Gln mutation is considered a polymorphism or a mutation in Indonesian population warrants further study. © Freund Publishing House Ltd., London.
5-alpha-reductase deficiency; Novel mutation; SRD5A2 gene
alanine; arginine; genomic DNA; glutamine; glycine; steroid 5alpha reductase 2; threonine; adolescent; adult; article; Asian; case report; enzyme deficiency; gene mutation; genetic disorder; human; Indonesia; karyotype 46,XY; male; male pseudohermaphroditism; mother; sibling; steroid 5alpha reductase 2 deficiency; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase; Adolescent; Female; Humans; Indonesia; Membrane Proteins; Mutation; Siblings
0334018X
JPEMF
21714467
Article
Q2