Journal article
Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families
European journal of neurology, Vol.17(6), pp.800-807
06/2010
DOI: 10.1111/j.1468-1331.2009.02929.x
PMID: 20158512
Abstract
Background:
Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant condition characterized by abnormal involuntary movements precipitated by sudden movement. The pericentromeric region of chromosome 16 has been linked to PKC by several reports. This study was to localize and identify PKC gene in four Chinese PKC families.
Methods:
Genetic linkage mapping with eight markers spanning chromosome 16p12-q13 was performed in 43 family members. Genome-wide single nucleotide polymorphism (SNP) scans were performed on four individuals in Family 1 in which infantile convulsion (IC) was co-inherited with PKC.
Results:
Individuals in Family 1 presented with both IC and paroxysmal choreoathetosis (ICCA), and Families 2, 3, and 4 presented only with PKC. Evidence for linkage was found with a maximum two-point LOD score of 4.89 for D16S690 (theta = 0.0) and a maximum multipoint LOD score was 5.34 between D16S3080 and D16S3136. Haplotype analysis showed the disease locus was between D16S3093 and D16S3057. A total of 84 SNPs spanned on 16q12.1-q13 was not segregated with the PKC phenotype, which defined an unlinked region from rs9933187 to rs8044753. Thus, the critical region of the PKC gene is across the pericentromeric region of chromosome 16, and most likely maps to a region of 20.5 Mb (6.2 cM) between D16S3093 and rs9933187 (16p11.2-q12.1).
Conclusion:
The assignment of the locus for PKC to the pericentromeric region of chromosome 16 is confirmed and putatively narrowed in the present study.
Details
- Title: Subtitle
- Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families
- Creators
- X. Wang - Peking Union Medical College HospitalW. Sun - Capital Medical UniversityX. Zhu - Academy of Medical SciencesL. Li - Capital Medical UniversityT. Du - MRC Laboratory of Molecular BiologyW. Mao - Capital Medical UniversityX. Wu - MRC Laboratory of Molecular BiologyH. Wei - Capital UniversityS. Zhu - MRC Laboratory of Molecular BiologyY. Sun - Capital Medical UniversityY. Liu - Chinese Academy of Medical Sciences & Peking Union Medical CollegeN. Niu - MRC Laboratory of Molecular BiologyY. Wang - Capital Medical UniversityY. Liu - Chinese Academy of Medical Sciences & Peking Union Medical College
- Resource Type
- Journal article
- Publication Details
- European journal of neurology, Vol.17(6), pp.800-807
- Publisher
- Wiley
- DOI
- 10.1111/j.1468-1331.2009.02929.x
- PMID
- 20158512
- ISSN
- 1351-5101
- eISSN
- 1468-1331
- Number of pages
- 8
- Grant note
- 30421003 / Science Fund for Creative Research Groups 7042037 / Natural Science Foundation of Beijing, China; Beijing Natural Science Foundation 2002BA711A08 / 10th Five-year Key Technologies RD Program
- Language
- English
- Date published
- 06/2010
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984701655602771
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