trio whole exome sequencing in patients with combined pituitary hormone deficiency

2015 Fiscal Year Final Research Report

• Project/Area Number: 25860871
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Nagasaki University
• Principal Investigator: DATEKI Sumito 長崎大学, 病院(医学系), 助教 (70462801)
• Research Collaborator: WATANABE Satoshi
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 小児内分泌学 / 下垂体

Outline of Final Research Achievements

We performed Trio-whole exome sequencing in three Japanese patients with combined pituitary hormone deficiency (Patient 1: a 12-year-old girl; patient 2: a 15-year-old boy; patient 3: an 1-year-old boy) for finding de novo and/or recessive type mutations in the patients. We found four de novo mutations (CDK13, MYOD1, SPATA13, XYLT) in patient 1 and one de novo mutation (TUBGCP3) in patient 2. In addition, we found three recessive homozygous mutations (TSPAN2, YEATS2, SYNM) in patient 2, and nine homozygous mutations (PKN2, MAGI1, ROBO1, KHDC1L, CCDC91, HNF1A, CYP1A2, TTLL12, RP1-32I10.10) in patient 3. No compound heterozygous mutations have not been identified in all the patients. These candidate genes have not been expressed in human pituitary cDNA. Array CGH analysis identified a heterozygous microdeletion in 3p11.2 involving HTR1F in patient 1. This microdeletion was identified in phenotypically normal father. Thus,
The deletion could not be pathogenic.

Free Research Field

小児内分泌学