Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

Rauch, Anita;Devriendt, Koenraad;Hennekam, Raoul;de Zegher, Francis;et.al.
(2008) Science — Vol. 319, n° 5864, p. 816-819 (2008)

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Authors
  • Rauch, Anita
    Author
  • Devriendt, KoenraadUCLouvain
    Author
  • Hennekam, RaoulUCLouvain
    Author
  • de Zegher, FrancisUCLouvain
    Author
  • et. al.
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).
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Rauch, A., Devriendt, K., Hennekam, R., de Zegher, F., & et al. (2008). Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science, 319(5864), 816-819. https://doi.org/10.1126/science.1151174 (Original work published 2008)