| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
We examined the genotype-phenotype relationship in 92 Japanese patients with congenital central hypoventilation syndrome (CCHS) carrying PHOX2B mutations; 86 cases with PARMs and 6 with NPARMs. The estimated incidence of CCHS was greater than one case per 148 000 births. In 25 PARM, the male-to-female ratio was ~ 3 and mental retardation was frequently accompanied. In 26 or more PARMs or NPARMs, the male-to-female ratio was equal and the patients were frequently complicated with Hirschsprung disease and had hypoventilation in the neonatal period. The patients carrying 25 PARM frequently had mental retardation likely because they were not able to receive appropriate ventilation support following a definitive diagnosis owing to subtle and or irregular hypoventilation. Molecular diagnosis provides a definitive diagnosis and enables to receive appropriate ventilator support.
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