title: De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
abstract: Seven patients with similar phenotypes of developmental delay and microcephaly were found by whole-exome sequencing to have de novo loss-of-function mutations in POGZ. POGZ is a pogo transposable element-derived protein with a zinc finger cluster. The protein is involved in normal kinetochore assembly and mitotic sister chromatid cohesion and mitotic chromosome segregation. POGZ deficiency may affect mitosis, disrupting brain development and function.
authors.affiliation: GeneDx, Gaithersburg, Maryland 20877, USA;
authors.forename: Yizhou
authors.initials: Y
authors.lastname: Ye
authors.affiliation: GeneDx, Gaithersburg, Maryland 20877, USA;
authors.forename: Megan T
authors.initials: MT
authors.lastname: Cho
authors.affiliation: GeneDx, Gaithersburg, Maryland 20877, USA;
authors.forename: Kyle
authors.initials: K
authors.lastname: Retterer
authors.affiliation: GeneDx, Gaithersburg, Maryland 20877, USA;
authors.forename: Nora
authors.initials: N
authors.lastname: Alexander
authors.affiliation: Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar;
authors.forename: Tawfeg
authors.initials: T
authors.lastname: Ben-Omran
authors.affiliation: Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar;
authors.forename: Mariam
authors.initials: M
authors.lastname: Al-Mureikhi
authors.affiliation: Nemours Children's Hospital, Orlando, Florida 32827, USA;
authors.forename: Ingrid
authors.initials: I
authors.lastname: Cristian
authors.affiliation: Nemours Children's Hospital, Orlando, Florida 32827, USA;
authors.forename: Patricia G
authors.initials: PG
authors.lastname: Wheeler
authors.affiliation: Nemours Children's Hospital, Orlando, Florida 32827, USA;
authors.forename: Carrie
authors.initials: C
authors.lastname: Crain
authors.affiliation: Children's National Medical Center, Washington, D.C. 20010, USA;
authors.forename: Dina
authors.initials: D
authors.lastname: Zand
authors.affiliation: Children's National Medical Center, Washington, D.C. 20010, USA;
authors.forename: Veronique
authors.initials: V
authors.lastname: Weinstein
authors.affiliation: Kennedy Krieger Institute, Baltimore, Maryland 21205, USA;
authors.forename: Hilary J
authors.initials: HJ
authors.lastname: Vernon
authors.affiliation: Kennedy Krieger Institute, Baltimore, Maryland 21205, USA;
authors.forename: Rebecca
authors.initials: R
authors.lastname: McClellan
authors.affiliation: Pediatrics and Genetics, Alpharetta, Georgia 30005, USA;
authors.forename: Vidya
authors.initials: V
authors.lastname: Krishnamurthy
authors.affiliation: GeneDx, Gaithersburg, Maryland 20877, USA;
authors.forename: Patrik
authors.initials: P
authors.lastname: Vitazka
authors.affiliation: GeneDx, Gaithersburg, Maryland 20877, USA;
authors.forename: Francisca
authors.initials: F
authors.lastname: Millan
authors.affiliation: Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032, USA.
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
keywords: intellectual disability, severe; microcephaly; severe global developmental delay