Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism-Reference-Cited by-同舟云学术

Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism

Published:2008-02-08 Issue:5864 Volume:319 Page:816-819
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Rauch Anita¹²³⁴⁵,Thiel Christian T.¹²³⁴⁵,Schindler Detlev¹²³⁴⁵,Wick Ursula¹²³⁴⁵,Crow Yanick J.¹²³⁴⁵,Ekici Arif B.¹²³⁴⁵,van Essen Anthonie J.¹²³⁴⁵,Goecke Timm O.¹²³⁴⁵,Al-Gazali Lihadh¹²³⁴⁵,Chrzanowska Krystyna H.¹²³⁴⁵,Zweier Christiane¹²³⁴⁵,Brunner Han G.¹²³⁴⁵,Becker Kristin¹²³⁴⁵,Curry Cynthia J.¹²³⁴⁵,Dallapiccola Bruno¹²³⁴⁵,Devriendt Koenraad¹²³⁴⁵,Dörfler Arnd¹²³⁴⁵,Kinning Esther¹²³⁴⁵,Megarbane André¹²³⁴⁵,Meinecke Peter¹²³⁴⁵,Semple Robert K.¹²³⁴⁵,Spranger Stephanie¹²³⁴⁵,Toutain Annick¹²³⁴⁵,Trembath Richard C.¹²³⁴⁵,Voss Egbert¹²³⁴⁵,Wilson Louise¹²³⁴⁵,Hennekam Raoul¹²³⁴⁵,de Zegher Francis¹²³⁴⁵,Dörr Helmuth-Günther¹²³⁴⁵,Reis André¹²³⁴⁵

Affiliation:

1. Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

2. Department of Human Genetics, University of Würzburg, Würzburg, Germany.

3. Leeds Institute of Molecular Medicine, St. James's University Hospital, Leeds, UK.

4. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.

5. Institut für Humangenetik und Anthropologie, Heinrich-Heine-Universität, Düsseldorf, Germany.

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 ).

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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