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Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Science. 2008 Feb 08; 319(5864):816-9.Sci

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).

Authors+Show Affiliations

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany. Anita.Rauch@humgenet.uni-erlangen.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18174396

Citation

Rauch, Anita, et al. "Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism." Science (New York, N.Y.), vol. 319, no. 5864, 2008, pp. 816-9.
Rauch A, Thiel CT, Schindler D, et al. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008;319(5864):816-9.
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 (New York, N.Y.), 319(5864), 816-9. https://doi.org/10.1126/science.1151174
Rauch A, et al. Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism. Science. 2008 Feb 8;319(5864):816-9. PubMed PMID: 18174396.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. AU - Rauch,Anita, AU - Thiel,Christian T, AU - Schindler,Detlev, AU - Wick,Ursula, AU - Crow,Yanick J, AU - Ekici,Arif B, AU - van Essen,Anthonie J, AU - Goecke,Timm O, AU - Al-Gazali,Lihadh, AU - Chrzanowska,Krystyna H, AU - Zweier,Christiane, AU - Brunner,Han G, AU - Becker,Kristin, AU - Curry,Cynthia J, AU - Dallapiccola,Bruno, AU - Devriendt,Koenraad, AU - Dörfler,Arnd, AU - Kinning,Esther, AU - Megarbane,André, AU - Meinecke,Peter, AU - Semple,Robert K, AU - Spranger,Stephanie, AU - Toutain,Annick, AU - Trembath,Richard C, AU - Voss,Egbert, AU - Wilson,Louise, AU - Hennekam,Raoul, AU - de Zegher,Francis, AU - Dörr,Helmuth-Günther, AU - Reis,André, Y1 - 2008/01/03/ PY - 2008/1/5/pubmed PY - 2008/2/22/medline PY - 2008/1/5/entrez SP - 816 EP - 9 JF - Science (New York, N.Y.) JO - Science VL - 319 IS - 5864 N2 - 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). SN - 1095-9203 UR - https://www.unboundmedicine.com/medline/citation/18174396/Mutations_in_the_pericentrin__PCNT__gene_cause_primordial_dwarfism_ L2 - https://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=18174396 DB - PRIME DP - Unbound Medicine ER -