Exome sequencing identifies variants in infants with sacral agenesis.
Georgia PitsavaMarcia L FeldkampNathan PankratzJohn LaneDenise M KayKristin M ConwayCharlotte HobbsGary M ShawJennita ReefhuisMary M JenkinsLynn M AlmliCynthia A MooreMartha WerlerMarilyn L BrowneChris CunniffAndrew F OlshanFaith PangilinanLawrence C BrodyRobert J SickoRichard H FinnellMichael J BamshadDaniel McGoldrickDeborah A NickersonJames C MullikinPaul A RomittiJames L Millsnull nullPublished in: Birth defects research (2022)
To our knowledge, this is the first study reporting a possible association between ID1 and non-syndromic SA. Although maternal pregestational diabetes has been strongly associated with SA, the missense variants in ID1 identified in two of three children were paternally inherited. These findings add to the knowledge of gene variants associated with non-syndromic SA and provide data for future studies.