Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

Cell Cycle. 2014;13(10):1650-1. doi: 10.4161/cc.28706. Epub 2014 Apr 1.

Authors

Hao Hu¹, Vanessa Suckow¹, Luciana Musante¹, Viola Roggenkamp², Nadine Kraemer³, Hans-Hilger Ropers¹, Christoph Hübner², Thomas F Wienker¹, Angela M Kaindl³

Affiliations

¹ Max Planck Institute for Molecular Genetics; Berlin, Germany.
² Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany.
³ Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany; Institute of Cell Biology and Neurobiology; Charité University Medicine Berlin; Berlin, Germany.

No abstract available

Keywords: ASPM; MCPH; Reunion paradox; compound heterozygous mutation; congenital microcephaly; intellectual deficit.

Publication types

Letter
Comment

MeSH terms

Chromosomal Proteins, Non-Histone / metabolism*
Chromosome Segregation*
Female
Humans
Male
Microcephaly / genetics*
Protein Serine-Threonine Kinases / metabolism*

Substances

Chromosomal Proteins, Non-Histone
Protein Serine-Threonine Kinases