Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2- q12.1

Hiro Aki Tomita, Shinichiro Nagamitsu, Keiko Wakui, Yoshimitsu Fukushima, Koki Yamada, Miyuki Sadamatsu, Akira Masui, Tohru Konishi, Toyojiro Matsuishi, Masao Aihara, Katsunori Shimizu, Kiyoshi Hashimoto, Mari Mineta, Michihito Matsushima, Takahiro Tsujita, Masaaki Saito, Hajime Tanaka, Shoji Tsuji, Takagi Toshihisa, Yusuke NakamuraShinichiro Nanko, Nobumasa Kato, Yoshibumi Nakane, Norio Niikawa

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173 Citations (Scopus)


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 [θ] = .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 ~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.

Original languageEnglish
Pages (from-to)1688-1697
Number of pages10
JournalAmerican Journal of Human Genetics
Issue number6
Publication statusPublished - 1999


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