Genetic Sequencing Data Characterized Genetic Etiology of Craniofacial Microsomia
- Description
This dataset was collected to study the genetic cause of craniofacial microsomia (CFM), which is the second most common congenital facial anomaly. In this study, they performed whole exome or genome sequencing of 146 kindreds with sporadic or familial CFM. Blood or saliva samples were collected from the proband and DNA was extracted from blood and saliva using standard procedures. This resulted in discovery of loss of function variants in SF3B2 in probands. They also investigated targeted morpholino knockdown of SF3B2 in Xenopus, which resulted in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects.
The dataset includes genetic sequencing data as well as supplementary data, which can be found in the publication. The supplementary data includes several tables. The tables contain data about burden of de novo variants in 138 probands with sporadic CFM, clinical characteristics of individuals with pathogenic SF3B2 variants, clinical characteristics of individuals from Kindred 7, and de novo and transmitted loss of function variants in SF3B2 identified in kindreds with CFM.
- Timeframe
- 2009 - 2020
Access
- Restrictions
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Free to All
- Instructions
- The genetic sequencing data generated in this study have been deposited in the dbGaP database. All other data supporting the findings of this study are available within the article in the Supplementary Materials.
- Grant Support
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Jean Renny Endowment for Craniofacial Research/Jean Renny Endowment for Craniofacial Research