Journal
SCIENCE
Volume 319, Issue 5864, Pages 816-819Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1151174
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Funding
- Wellcome Trust [080952/Z/06/Z, 062346/Z/00/Z] Funding Source: Medline
- Wellcome Trust [080952/Z/06/Z] Funding Source: Wellcome Trust
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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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