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Mutations in the pericentrin (PCNT) gene cause primordial dwarfism |
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| Authors: | Rauch Anita Thiel Christian T Schindler Detlev Wick Ursula Crow Yanick J Ekici Arif B van Essen Anthonie J Goecke Timm O Al-Gazali Lihadh Chrzanowska Krystyna H Zweier Christiane Brunner Han G Becker Kristin Curry Cynthia J Dallapiccola Bruno Devriendt Koenraad Dörfler Arnd Kinning Esther Megarbane André Meinecke Peter Semple Robert K Spranger Stephanie Toutain Annick Trembath Richard C Voss Egbert Wilson Louise Hennekam Raoul de Zegher Francis Dörr Helmuth-Günther Reis André |
| Affiliation: | Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany. Anita.Rauch@humgenet.uni-erlangen.de |
| 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). |
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