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2016 Fiscal Year Final Research Report

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

Research Project

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Project/Area Number 15K19538
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Endocrinology
Research InstitutionNational 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

URL: 

Published: 2018-03-22  

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