Journal
JOURNAL OF HUMAN GENETICS
Volume 51, Issue 9, Pages 760-764Publisher
NATURE PUBLISHING GROUP
DOI: 10.1007/s10038-006-0017-1
Keywords
autosomal recessive primary microcephaly; CENPJ gene; MCPH6 locus; Pakistan; sequence analysis
Categories
Ask authors/readers for more resources
Autosomal recessive primary microcephaly (MCPH) is a rare human genetic disorder in which the head circumference is reduced because of abnormality in fetal brain growth. To date, six loci and four genes have been identified for this condition. Our study of primary MCPH led to the identification of 33 Pakistani families with different ethnic backgrounds. Most of these families showed linkage to MCPH5 locus on chromosome 1q31. Only one family with Pashtoon origin from a remote region in Pakistan linked to MCPH6 locus on chromosome 13q12.12-q12.13. Sequence analysis of exon 11 of CENPJ gene, located at MCPH6 locus, revealed a novel four base pair deletion mutation, which is predicted to be protein truncating.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available