2010 Fiscal Year Final Research Report
Copy Number Variation as a Cause of Thyroid dysgenesis
| Project/Area Number |
21791006
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Keio University |
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Principal Investigator |
NARUMI Satoshi Keio University, 医学部, 助教 (40365317)
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| Project Period (FY) |
2009 – 2010
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| Keywords | 発生・分化 / ゲノム / 遺伝学 / マイクロアレイ |
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| Research Abstract |
We screened copy number variation (CNV) abnormalities in 57 Japanese patients with thyroid dysgenesis. Among them, 50 patients had extrathyroidal complications, while the remaining seven did not. The genome-wide CNV analyses showed that two patients with extrathyroidal complications (e.g., cleft palate, cardiac malformation) had a seemingly pathogenic CNV (deletion or duplication), of which size was about 3 Mb. CNV abnormalities are important causes of complicated thyroid dysgenesis, although the overall prevalence among thyroid dysgenesis is low.
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