Work

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

Year: 2015

Type: preprint

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.

Source: Molecular Case Studies

DOI: 10.1101/mcs.a000455

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

Institutions: Hamad Medical Corporation, Nemours Children's Clinic, Children's National, Kennedy Krieger Institute, Pediatrics and Genetics, Columbia University Irving Medical Center

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W2177815640

Cites: 24

Cited by: 65

Related to: 10