A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly

被引：0
作者：
Asma Gul
Muhammad Jawad Hassan
Sabir Hussain
Syed Irfan Raza
Muhammad Salman Chishti
Wasim Ahmad
机构：
[1] Quaid-I-Azam University,Department of Biochemistry, Faculty of Biological Sciences
来源：
Journal of Human Genetics | 2006年 / 51卷
关键词：
Autosomal recessive primary microcephaly; gene; locus; Pakistan; Sequence analysis;
D O I：
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中图分类号：
学科分类号：
摘要：
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.
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页码：760 / 764
页数：4
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