Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

Anita Rauch, Christian T. Thiel, Detlev Schindler, Ursula Wick, Yanick J. Crow, Arif B. Ekici, Anthonie J. Van Essen, Timm O. Goecke, Lihadh Al-Gazali, Krystyna H. Chrzanowska, Christiane Zweier, Han G. Brunner, Kristin Becker, Cynthia J. Curry, Bruno Dallapiccola, Koenraad Devriendt, Arnd Dörfler, Esther Kinning, André Megarbane, Peter MeineckeRobert K. Semple, Stephanie Spranger, Annick Toutain, Richard C. Trembath, Egbert Voss, Louise Wilson, Raoul Hennekam, Francis De Zegher, Helmuth Günther Dörr, André Reis

Research output: Contribution to journalArticle

Abstract

Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients. Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence. Absence of PCNT results in disorganized mitotic spindles and missegregation of chromosomes. Mutations in related genes are known to cause primary microcephaly (MCPH1, CDK5RAP2, ASPM, and CENPJ).

Original languageEnglish
Pages (from-to)816-819
Number of pages4
JournalScience
Volume319
Issue number5864
DOIs
Publication statusPublished - Feb 8 2008

ASJC Scopus subject areas

  • General

Fingerprint Dive into the research topics of 'Mutations in the pericentrin (PCNT) gene cause primordial dwarfism'. Together they form a unique fingerprint.

  • Cite this

    Rauch, A., Thiel, C. T., Schindler, D., Wick, U., Crow, Y. J., Ekici, A. B., Van Essen, A. J., Goecke, T. O., Al-Gazali, L., Chrzanowska, K. H., Zweier, C., Brunner, H. G., Becker, K., Curry, C. J., Dallapiccola, B., Devriendt, K., Dörfler, A., Kinning, E., Megarbane, A., ... Reis, A. (2008). Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science, 319(5864), 816-819. https://doi.org/10.1126/science.1151174