Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Authors: Rauch, A  Thiel, CT  Schindler, D  Wick, U  Crow, YJ  Ekici, AB  Van Essen, AJ  Goecke, TO  Al-Gazali, L  Chrzanowska, KH  Zweier, C  Brunner, HG  Becker, K  Curry, CJ  Dallapiccola, B  Devriendt, K  Dorfler, A  Kinning, E  Megarbane, A  Meinecke, P  Semple, RK  Spranger, S  Toutain, A  Trembath, RC  Voss, E  Wilson, L  Hennekam, R  De Zegher, F  Dorr, HG  Reis, A 
Citation: Rauch A, etal., Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3.
Pubmed: (View Article at PubMed) PMID:18174396
DOI: Full-text: DOI:10.1126/science.1151174

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).

Annotation

Disease Annotations
Objects Annotated

Additional Information

 
CRRD Object Information
CRRD ID: 11537401
Created: 2016-10-04
Species: All species
Last Modified: 2016-10-04
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.