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Title: Protein-truncating mutations in ASPM cause variable reduction in brain size
Authors: Bond, Jacquelyn ×
Scott, Sheila
Hampshire, Daniel J
Springell, Kelly
Corry, Peter
Abramowicz, Marc J
Mochida, Ganesh H
Hennekam, Raoul C M
Maher, Eamonn R
Fryns, Jean-Pierre
Alswaid, Abdulrahman
Jafri, Hussain
Rashid, Yasmin
Mubaidin, Ammar
Walsh, Christopher A
Roberts, Emma
Woods, C Geoffrey #
Issue Date: Oct-2003
Series Title: American Journal of Human Genetics vol:73 issue:5 pages:1170-7
Abstract: Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human autosomal recessive primary microcephaly (MCPH), a condition in which there is a failure of normal fetal brain development, resulting in congenital microcephaly and mental retardation. We have performed the first comprehensive mutation screen of the 10.4-kb ASPM gene, identifying all 19 mutations in a cohort of 23 consanguineous families. Mutations occurred throughout the ASPM gene and were all predicted to be protein truncating. Phenotypic variation in the 51 affected individuals occurred in the degree of microcephaly (5-11 SDs below normal) and of mental retardation (mild to severe) but appeared independent of mutation position.
URI: 
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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