PMID- 10577923
OWN - NLM
STAT- MEDLINE
DCOM- 20000127
LR  - 20190515
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 6
DP  - 1999 Dec
TI  - Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.
PG  - 1688-97
AB  - Paroxysmal kinesigenic choreoathetosis (PKC), the most frequently described type 
      of paroxysmal dyskinesia, is characterized by recurrent, brief attacks of
      involuntary movements induced by sudden voluntary movements. Some patients with
      PKC have a history of infantile afebrile convulsions with a favorable outcome. To
      localize the PKC locus, we performed genomewide linkage analysis on eight
      Japanese families with autosomal dominant PKC. Two-point linkage analysis
      provided a maximum LOD score of 10.27 (recombination fraction [theta] =.00;
      penetrance [p] =.7) at marker D16S3081, and a maximum multipoint LOD score for a 
      subset of markers was calculated to be 11.51 (p = 0.8) at D16S3080. Haplotype
      analysis defined the disease locus within a region of approximately 12.4 cM
      between D16S3093 and D16S416. P1-derived artificial chromosome clones containing 
      loci D16S3093 and D16S416 were mapped, by use of FISH, to 16p11.2 and 16q12.1,
      respectively. Thus, in the eight families studied, the chromosomal localization
      of the PKC critical region (PKCR) is 16p11.2-q12.1. The PKCR overlaps with a
      region responsible for "infantile convulsions and paroxysmal choreoathetosis"
      (MIM 602066), a recently recognized clinical entity with benign infantile
      convulsions and nonkinesigenic paroxysmal dyskinesias.
FAU - Tomita, H a
AU  - Tomita Ha
AD  - Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki
      852-8523, Japan. E-mail address: f1121@cc.nagasaki-u.ac.jp.
FAU - Nagamitsu, S
AU  - Nagamitsu S
FAU - Wakui, K
AU  - Wakui K
FAU - Fukushima, Y
AU  - Fukushima Y
FAU - Yamada, K
AU  - Yamada K
FAU - Sadamatsu, M
AU  - Sadamatsu M
FAU - Masui, A
AU  - Masui A
FAU - Konishi, T
AU  - Konishi T
FAU - Matsuishi, T
AU  - Matsuishi T
FAU - Aihara, M
AU  - Aihara M
FAU - Shimizu, K
AU  - Shimizu K
FAU - Hashimoto, K
AU  - Hashimoto K
FAU - Mineta, M
AU  - Mineta M
FAU - Matsushima, M
AU  - Matsushima M
FAU - Tsujita, T
AU  - Tsujita T
FAU - Saito, M
AU  - Saito M
FAU - Tanaka, H
AU  - Tanaka H
FAU - Tsuji, S
AU  - Tsuji S
FAU - Takagi, T
AU  - Takagi T
FAU - Nakamura, Y
AU  - Nakamura Y
FAU - Nanko, S
AU  - Nanko S
FAU - Kato, N
AU  - Kato N
FAU - Nakane, Y
AU  - Nakane Y
FAU - Niikawa, N
AU  - Niikawa N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Child
MH  - Child, Preschool
MH  - Chorea/*genetics
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 16/*genetics
MH  - Cloning, Molecular
MH  - Female
MH  - Genes, Dominant/genetics
MH  - Genetic Linkage/*genetics
MH  - Genetic Markers
MH  - Haplotypes/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Japan
MH  - Male
MH  - Middle Aged
MH  - Pedigree
MH  - Penetrance
PMC - PMC1288380
EDAT- 1999/12/01 09:00
MHDA- 2000/03/21 09:00
CRDT- 1999/12/01 09:00
PHST- 1999/12/01 09:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/12/01 09:00 [entrez]
AID - S0002-9297(07)63589-7 [pii]
AID - 10.1086/302682 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Dec;65(6):1688-97. doi: 10.1086/302682.