De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
- Yizhou Ye1,
- Megan T. Cho1,
- Kyle Retterer1,
- Nora Alexander1,
- Tawfeg Ben-Omran2,
- Mariam Al-Mureikhi2,
- Ingrid Cristian3,
- Patricia G. Wheeler3,
- Carrie Crain3,
- Dina Zand4,
- Veronique Weinstein4,
- Hilary J. Vernon5,
- Rebecca McClellan5,
- Vidya Krishnamurthy6,
- Patrik Vitazka1,
- Francisca Millan1 and
- Wendy K. Chung7
- 1GeneDx, Gaithersburg, Maryland 20877, USA;
- 2Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar;
- 3Nemours Children's Hospital, Orlando, Florida 32827, USA;
- 4Children's National Medical Center, Washington, D.C. 20010, USA;
- 5Kennedy Krieger Institute, Baltimore, Maryland 21205, USA;
- 6Pediatrics and Genetics, Alpharetta, Georgia 30005, USA;
- 7Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032, USA
- Corresponding author: wkc15{at}columbia.edu
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.
Footnotes
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[Supplemental material is available for this article.]
- Received June 3, 2015.
- Accepted July 28, 2015.
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