title: A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.
abstract: 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.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: Asma
authors.initials: A
authors.lastname: Gul
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: Muhammad Jawad
authors.initials: MJ
authors.lastname: Hassan
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: Sabir
authors.initials: S
authors.lastname: Hussain
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: Syed Irfan
authors.initials: SI
authors.lastname: Raza
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: Muhammad Salman
authors.initials: MS
authors.lastname: Chishti
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan. wahmad@qau.edu.pk.
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: C414735:CENPJ protein, human; D008869:Microtubule-Associated Proteins; D004247:DNA