| Literature DB >> 18174396 |
Anita Rauch1, 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 Meinecke, Robert K Semple, Stephanie Spranger, Annick Toutain, Richard C Trembath, Egbert Voss, Louise Wilson, Raoul Hennekam, Francis de Zegher, Helmuth-Günther Dörr, André Reis.
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).Entities:
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Year: 2008 PMID： 18174396 DOI： 10.1126/science.1151174
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728