| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2022: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2021: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2020: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
We used next-generation sequencing approach for a trio analysis of Japanese patients with CL/P and CP, along with their parents. The specific targeted genes included IRF6 (1q32.2), WNT5A (3p14.3), WNT9B (17q21.32), TP63 (3q28), MSX1 (4p16), TFAP2A (6p24.3), PAX9 (14q12-q 13), DLX3 (17q21.33), DLX4 (17q21.33), and MN1 (22q12.1). We discovered a noteworthy missense mutation, 359C>T (P120L), in the DLX4 gene in a single patient with CL/P. Furthermore, novel variants (WNT5A 639+918C>T, TFAP2A 45+2755C>G, WNT9B 904+3061A>G, TP63 1349+8281T>C, PAX9 4+272G>A) in highly conserved sequences within the non-coding regions were observed in three patients with CL/P and two patients with CP. Our genetic analysis of Japanese patients with CL/P, using the next-generation sequencing technology unveiled novel mutations and variants that had eluded previous GWAS. Nonetheless, the underlying causes of CL/P onset remain enigmatic, presenting a continuing challenge in the field of craniofacial genetics.
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