top of page

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

Authors: Yizhou Ye; Megan T Cho; Kyle Retterer; Nora Alexander; Tawfeg Ben-Omran; Mariam Al-Mureikhi; Ingrid Cristian; Patricia G Wheeler; Carrie Crain; Dina Zand; Veronique Weinstein; Hilary J Vernon; Rebecca McClellan; Vidya Krishnamurthy; Patrik Vitazka; Francisca Millan; Wendy K Chung

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.

Global-Advocacy-Alliance-600px.png

Cure POGZ Disorders Foundation does not discriminate against race, color, religion, gender, sexual orientation, national origin, age, disability, gender identity and expression, marital or military status, or any class protected by applicable law.

  • Facebook
  • Instagram
  • LinkedIn
bottom of page