Identification and functional characterization of a novel causative gene for adrenal hypoplasia

2015 Fiscal Year Final Research Report

• Project/Area Number: 26893259
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Keio University
• Principal Investigator: AMANO NAOKO 慶應義塾大学, 医学部, 研究員 (70348689)
• Project Period (FY): 2014-08-29 – 2016-03-31
• Keywords: 小児内分泌 / 発生分化 / 副腎

Outline of Final Research Achievements

We enrolled Japanese pediatric patients having primary adrenal insufficiency without diagnostic findings of urine or serum steroid metabolites indicating enzymatic defects, such as 21-hydroxylase deficiency. We sequenced 12 genes associated with primary adrenal insufficiency. We performed array comparative genomic hybridization analyses in the mutation-negative patients.In two of these patients, we detected submicroscopic deletions of the same gene (Gene A). By PCR based sequencing, we identified the breakpoint in one patient, who had 73.5kb deletion in Gene A. However, we could not identified the breakpoint in the other patient. Additionally, we performed custom array CGH (fine-tiling array CGH), and presumed that the deletion size was between 58.5-61.0kb. We revealed that the mRNAs extracted from lymphoblastoid cell lines of the two patients lacked the same exon of Gene A.

Free Research Field

小児内分泌