Identification and functional elucidation of genetic abnormalities in patients with disorders of sex development using next-generation approaches

2015 Fiscal Year Final Research Report

• Project/Area Number: 26860837
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: National Center for Child Health and Development
• Principal Investigator: IGARASHI MAKI 国立研究開発法人国立成育医療研究センター, その他部局等, 研究員 (10623035)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 性分化疾患 / 次世代シークエンス / アレイCGH

Outline of Final Research Achievements

We performed systematic molecular analysis of 173 patients with disorders of sex development (DSD). Remarkable findings include: (1)Identification of a splice site mutation of MAMLD1 in a patient with hypospadias. (2)Identification of genetic alterations in SOX9 and its flanking region in 3 patients with 46,XY DSD without campomelic dysplasia. (3)Identification of causative gene mutations in 8 patients with hypospadias. (4)Identification of copy number gain of SOX3 in DSD-negative females. (5)Identification of copy number variations at azoospermia-related region in patients with hypospadias. (6)Identification of identical NR5A1 mutations in two 46,XX individuals with testicular tissues. The findings from (1) to (5) were published in scientific journals, and (6) was submitted.

Free Research Field

分子生物学