A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Diane D ShaoRachel StraussbergHind AhmedAmjad KhanSonghai TianR Sean HillRichard S SmithAmar J MajmundarNajim AmezianeJennifer E NeilEdward YangAmal Al TenaijiSaumya S JamuarThorsten M SchlaegerMuna Al-SaffarIris HovelAisha Al-ShamsiLina Basel-SalmonAchiya Z AmirLariza M RentoJiin Ying LimIndra GanesanShirlee ShrilGilad EvronyA James BarkovichPeter BauerFriedhelm HildebrandtMin DongGuntram BorckChristian BeetzLihadh Al-GazaliWafaa EyaidChristopher A WalshPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
We propose that a homozygous loss-of-function variant in EMC10 causes a novel syndromic neurodevelopmental phenotype. Remarkably, the recurrent variant is likely the result of a hypermutable site and arose on distinct founder haplotypes.
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