A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly
Copyright policy )A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly
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.
- Quaid-i-Azam University Pakistan
Male, Adolescent, Base Sequence, Chromosomes, Human, Pair 13, Genes, Recessive, DNA, Pedigree, Consanguinity, Microcephaly, Humans, Female, Pakistan, Child, Microtubule-Associated Proteins, Sequence Deletion
Male, Adolescent, Base Sequence, Chromosomes, Human, Pair 13, Genes, Recessive, DNA, Pedigree, Consanguinity, Microcephaly, Humans, Female, Pakistan, Child, Microtubule-Associated Proteins, Sequence Deletion
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).48 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!