歌舞伎症候群

歌舞伎症候群
Facial phenotype of Kabuki syndrome patient
概要
診療科 遺伝医学
分類および外部参照情報
ICD-10 Q89.8
ICD-9-CM 759.89
OMIM 147920
DiseasesDB 32161

歌舞伎症候群（かぶきしょうこうぐん、英: Kabuki syndrome）は常染色体優性遺伝（AD）の遺伝疾患で、1981年に新川詔夫と黒木良和によって特徴的な顔貌を呈する疾患として初めて報告された[1][2]。そのため、新川-黒木症候群とも呼ばれる。歌舞伎症候群で見られる切れ長の目が、歌舞伎役者の化粧を思わせることからこの名がある。頻度は約32,000人に1人という稀な疾患である[3]。

概要

歌舞伎症候群は1981年に新川詔夫らのグループと黒木良和らのグループによってそれぞれ独立に報告されたのが始まりである[1][2]。その特徴としてはまず、下眼瞼外側1/3の外反による切れ長の眼瞼裂が特徴的である。耳や鼻の奇形も高頻度で見られ、鼻中隔の短縮や先端の陥凹によるつぶれた鼻や大きく突出した耳（耳介聳立やカップ状耳介）、弓状の眉や並びの悪い歯が典型的であり、内耳奇形を合併することがある。指紋では指先の尺側蹄状紋の増加が見られることが多い。骨格に関しては脊柱の異常（脊椎側彎症など）が見られ、小指の中節骨短縮による短く太い指が見られることが多い。内臓奇形としては心血管系の奇形（大動脈縮窄症、心室中隔欠損、心房中隔欠損など）が約半数に認められ、腎尿路系の異常が約3割に認められる。この他、易感染性を示し、中耳炎などを起こしやすいことが知られる。

32,000人に1人という稀な遺伝疾患で[3]、その多くは孤発例とされる。

原因

歌舞伎症候群は切れ長の目が特徴的であり、歌舞伎役者の化粧を思わせることからこの名がついた。

歌舞伎症候群の責任遺伝子はよくわかっていなかったが、2010年にSarah B.Ngや新川詔夫らによって12番染色体上にあるヒストンメチル基転移酵素の1種であるMLL2の機能不全が原因である可能性が高いということが明らかにされた[4]。

出典

[脚注の使い方]
  1. ^ a b Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr. 1981;99:565–569. PMID 7277096
  2. ^ a b Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr. 1981;99:570–573. PMID 7277097
  3. ^ a b Niikawa N, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet. 1988;31:565–589. PMID 3067577
  4. ^ Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.Nat Genet. 2010 Sep;42(9):790-3 PMID 20711175

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