| identifier | PRJEB2860 | ||||||||||||
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| type | bioproject | ||||||||||||
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| title | Activating mutations in ABCC9 cause Cantú syndrome | ||||||||||||
| description | Cantú syndrome is characterized by congenital hypertrichosis, characteristic facial abnormalities, cardiomegaly and osteochondrodyplasia. We use family based exome sequencing and identified a de novo mutation in ABCC9 and subsequently identified dominant missense mutations in ABCC9 in 14 out of 16 cases. ABCC9 is part of an ATP dependent potassium channel; we show that mutations in ABCC9 reduce the ATP-mediated inhibition of this channel. Our findings may have direct implications for the treatment of Cantú patients because ABCC9 is a known pharmaceutical target. | ||||||||||||
| data type | Exome | ||||||||||||
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| distribution | JSONJSON-LD | ||||||||||||
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| status | public | ||||||||||||
| visibility | unrestricted-access | ||||||||||||
| dateCreated | 2012-04-30T00:00:00Z | ||||||||||||
| dateModified | 2012-04-30T00:00:00Z | ||||||||||||
| datePublished | 2012-04-30T00:00:00Z |