Systematic mutation screening and genome-wide copy number analysis of patients with delayed puberty and precocious puberty.

2016 Fiscal Year Final Research Report

• Project/Area Number: 15K19538
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Endocrinology
• Research Institution: National Center for Child Health and Development
• Principal Investigator: Suzuki Erina 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, (非)研究員 (60726785)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Keywords: 次世代シークエンサー / アレイCGH / 変異 / 染色体異常

Outline of Final Research Achievements

We conducted next generation sequencing-based comprehensive screening of nucleotide-level mutations and array comparative genomic hybridization-based screening of genomic rearrangements for 218 samples obtained from patients with delayed puberty and 48 samples obtained from patients with precocious puberty,. As a result, we found (i) a novel inactivating SOX10 mutation in a patient with Kallmann syndrome accompanied by deafness and iris hypopigmentation; (ii) complex X chromosome rearrangements in two patients with ovarian dysfunction, and (iii) the first activating PROKR2 mutation in a patient with precocious puberty.

Free Research Field

分子生物学