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 (n = 138) or familial (n = 8) CFM. This is identified as a highly significant burden of loss of function variants in SF3B2, which is the most prevalent genetic cause of CFM. Individuals between 0 and 18 years of age were included in this study. Detailed phenotype was confirmed from physical examination performed by a medical geneticist or medical chart abstraction, standardized 2D photos, and parental interview on medical history. Prenatal and family history was collected to account for exposure to known teratogenic substances, and to assess recurrence of the phenotype in the family. Blood or saliva samples were collected from the proband and available parents and affected relatives.
They also investigated targeted morpholino knockdown of SF3B2 in Xenopus laevis, which resulted in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects. The dataset includes genetic sequencing data as well as source data for underlying figures tied to the publication. Source data contains data for Sf3b2 knockdown in Xenopus embryos and Xenopus tadpoles.
- Timeframe
- 2009 - 2020
Access
- Restrictions
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Free to All
- Instructions
- The genetic sequencing data generated in this study are accessible through dbGaP and source data supporting the findings of this study are available within the article on PubMed Central (PMC).
- Grant Support
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Jean Renny Endowment for Craniofacial Research/Jean Renny Endowment for Craniofacial Research