Haploinsufficiency of SF3B2 causes craniofacial microsomia.

doi:10.1038/s41467-021-24852-9

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Article

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Nature communications - 3 Aug 2021

Timberlake Andrew T, Griffin Casey, Heike Carrie L, Hing Anne V, Cunningham Michael L, Chitayat David, Davis Mark R, Doust Soghra J, Drake Amelia F, Duenas-Roque Milagros M, Goldblatt Jack, Gustafson Jonas A, Hurtado-Villa Paula, Johns Alexis, Karp Natalya, Laing Nigel G, Magee Leanne, Mullegama Sureni V, Pachajoa Harry, Porras-Hurtado Gloria L, Schnur Rhonda E, Slee Jennie, Singer Steven L, Staffenberg David A, Timms Andrew E, Wise Cheryl A, Zarante Ignacio, Saint-Jeannet Jean-Pierre, Luquetti Daniela V

Abstract excerpt

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function variants in SF3B2 (P = 3.8 × 10-10), a component of the U2 small nuclear ribonucleoprotein complex, in probands. We...

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PMID: 34344887
DOI: 10.1038/s41467-021-24852-9
PMCID: PMC8333351

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