title: Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
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.affiliation: Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany. Anita.Rauch@humgenet.uni-erlangen.de
authors.forename: Anita
authors.initials: A
authors.lastname: Rauch
authors.forename: Christian T
authors.initials: CT
authors.lastname: Thiel
authors.forename: Detlev
authors.initials: D
authors.lastname: Schindler
authors.forename: Ursula
authors.initials: U
authors.lastname: Wick
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
authors.forename: Arif B
authors.initials: AB
authors.lastname: Ekici
authors.forename: Anthonie J
authors.initials: AJ
authors.lastname: van Essen
authors.forename: Timm O
authors.initials: TO
authors.lastname: Goecke
authors.forename: Lihadh
authors.initials: L
authors.lastname: Al-Gazali
authors.forename: Krystyna H
authors.initials: KH
authors.lastname: Chrzanowska
authors.forename: Christiane
authors.initials: C
authors.lastname: Zweier
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
authors.forename: Kristin
authors.initials: K
authors.lastname: Becker
authors.forename: Cynthia J
authors.initials: CJ
authors.lastname: Curry
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Koenraad
authors.initials: K
authors.lastname: Devriendt
authors.forename: Arnd
authors.initials: A
authors.lastname: Dörfler
authors.forename: Esther
authors.initials: E
authors.lastname: Kinning
authors.forename: André
authors.initials: A
authors.lastname: Megarbane
authors.forename: Peter
authors.initials: P
authors.lastname: Meinecke
authors.forename: Robert K
authors.initials: RK
authors.lastname: Semple
authors.forename: Stephanie
authors.initials: S
authors.lastname: Spranger
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Richard C
authors.initials: RC
authors.lastname: Trembath
authors.forename: Egbert
authors.initials: E
authors.lastname: Voss
authors.forename: Louise
authors.initials: L
authors.lastname: Wilson
authors.forename: Raoul
authors.initials: R
authors.lastname: Hennekam
authors.forename: Francis
authors.initials: F
authors.lastname: de Zegher
authors.forename: Helmuth-Günther
authors.initials: HG
authors.lastname: Dörr
authors.forename: André
authors.initials: A
authors.lastname: Reis
mesh_terms: D000941:Antigens / Q000235:genetics* / Q000378:metabolism / Q000502:physiology*; D017209:Apoptosis; D002460:Cell Line; D018385:Centrosome / Q000502:physiology; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D006801:Humans; D008126:Lod Score; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008938:Mitosis; D009154:Mutation; D010375:Pedigree; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D008941:Spindle Apparatus / Q000502:physiology / Q000648:ultrastructure; D013577:Syndrome
chemical_list: D000941:Antigens; D012333:RNA, Messenger; C086178:pericentrin