Title: Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
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, Helmut-Günther
Reis, André #
Issue Date: Feb-2008
Publisher: American Association for the Advancement of Science
Series Title: Science vol:319 issue:5864 pages:816-819
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, CENPJ).
ISSN: 0036-8075
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Section Newborn (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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