(1)「生化学診断が困難な原発性副腎皮質機能低下症」の63例中54例で遺伝子変異を同定した (STAR 19例、NR0B1 20例、SAMD9 8例、AAAS 3例、NNT 2例、MC2R 1例、CDK N1C 1例)。各単一遺伝子疾患の臨床的特徴について検討した成果を学術雑誌に受理された。 (2)先天性副腎低形成症3例で遺伝子A内に微細欠失を同定した。遺伝子A安定発現株を用いたin vitro機能解析で、欠失型は、野生型よりもβカテニン産生能が低下した。
We enrolled 63 Japanese children (59 families) with biochemically uncharacterized PAI, and sequenced 12 PAI-associated genes. We calculated the proportion of mutation-carrying patients according to demographic characteristics. We identified genetic defects in 50 (85%) families: STAR in 19, NR0B1 in 18, SAMD9 in seven, AAAS in two, NNT in two, MC2R in one and CDKN1C in one. This work was published in the peer-reviewed academic journal‘European journal of endocrinology.’ We identified submicroscopic deletions in the gene A in three patients with adrenal hypoplasia. The in vitro study using the HEK293 cells having stable expression of gene A revealed that β-catenin producing-capacity would decrease in the identified gene A-deleted cells.

研究種目 : 基盤研究(C)(一般)
研究期間 : 2016～2018
課題番号 : 16K09998
研究分野 : 小児内分泌