多様な人種におけるウィリアムズ症候群



Williams-Beuren syndrome in diverse populations.

Kruszka P(1), Porras AR(2), de Souza DH(3), Moresco A(4), Huckstadt V(4), Gill AD(1), Boyle AP(2), Hu T(1), Addissie YA(1), Mok GTK(5), Tekendo-Ngongang C(6), Fieggen K(6), Prijoles EJ(7), Tanpaiboon P(8), Honey E(9), Luk HM(10), Lo IFM(10), Thong MK(11), Muthukumarasamy P(11), Jones KL(12), Belhassan K(1)(13), Ouldim K(13), El Bouchikhi I(13)(14), Bouguenouch L(13), Shukla A(15), Girisha KM(15), Sirisena ND(16), Dissanayake VHW(16), Paththinige CS(16), Mishra R(16), Kisling MS(8), Ferreira CR(8), de Herreros MB(17), Lee NC(18), Jamuar SS(19), Lai A(19), Tan ES(19), Ying Lim J(19), Wen-Min CB(19), Gupta N(20), Lotz-Esquivel S(21), Badilla-Porras R(22), Hussen DF(23), El Ruby MO(24), Ashaat EA(24), Patil SJ(25), Dowsett L(26), Eaton A(27), Innes AM(27), Shotelersuk V(28), Badoe E(29), Wonkam A(6), Obregon MG(4), Chung BHY(5), Trubnykova M(30), La Serna J(30), Gallardo Jugo BE(30), Chavez Pastor M(30), Abarca Barriga HH(30), Megarbane A(31), Kozel BA(32), van Haelst MM(33), Stevenson RE(7), Summar M(8), Adeyemo AA(34), Morris CA(35), Moretti-Ferreira D(3), Linguraru MG(2), Muenke M(1).
Author information:
(1)Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
(2)Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia.
(3)Department of Genetics, Institute of Biosciences, Sao Paulo State University - UNESP, Sao Paulo, Brazil.
(4)Servicio de Genetica, Hospital de Pediatria Garrahan, Buenos Aires, Argentina.
(5)Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hongkong, China.
(6)Division of Human Genetics, University of Cape Town, Cape Town, South Africa.
(7)Greenwood Genetic Center, Greenwood, South Carolina.
(8)Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia.
(9)Department of Genetics, University of Pretoria, Pretoria, South Africa.
(10)Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, Hongkong, China.
(11)Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
(12)Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
(13)Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.
(14)Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah, Fez, Morocco.
(15)Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
(16)Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
(17)National Secretariat for the Rights of People with Disabilities (SENADIS), Fernando de la Mora, Paraguay.
(18)Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
(19)Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
(20)Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
(21)Research Department, Hospital San Juan de Dios (CCSS), San Jose, Costa Rica.
(22)Medical Genetics and Metabolism Department, Hospital Nacional de Ninos(CCSS), San Jose, Costa Rica.
(23)Department of Human Cytogenetics, The National Research Centre, Cairo, Egypt.
(24)Clinical Genetics Department, National Research Centre, Cairo, Egypt.
(25)Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India.
(26)Kapi'olani Medical Center for Women and Children, Honolulu, Hawaii.
(27)Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta.
(28)Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
(29)School of Medicine and Dentistry, College of Health Sciences, University of Ghana, Accra, Ghana.
(30)Instituto Nacional de Salud del Nino, Lima, Peru.
(31)Institut Jerome Lejeune, Paris, France.
(32)National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
(33)Department of Genetics, University Medical Centre, Utrecht, Utrecht, The Netherlands.
(34)Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
(35)Department of Pediatrics (Genetics Division), University of Nevada School of Medicine, Las Vegas, Nevada.
Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672.

ウィリアムズ症候群は7q11.23領域における1.5Mbの欠失を原因とする通常の微小欠失症候群である。ウィリアムズ症候群の表現型はヨーロッパ系統の人種においては詳しい記述がなされているが、他の民族の表現型はそれほど注目がされていない。本研究においては、多様な人種のウィリアムズ症候群患者を臨床的かつ顔分析技術を用いて評価した。19か国、137人のウィリアムズ症候群患者の臨床データと写真が得られた。平均年齢は11歳で女性が45%である。最も多い臨床表現型要素は眼窩周囲の膨満と知的障害であり、我々の対象であるコホート集団の90%以上に存在した。さらに、ウィリアムズ症候群患者は75%に平板な頬骨、長い人中、幅広い口、小さな顎を有している。顔分析技術を用いて、アジア系、アフリカ系、コーカサス系、ラテンアメリカ系のウィリアムズ症候群患者286人と、性別と年齢を一致させた286人の対照群を比較したところ、コホート全体を同時に評価した場合、ウィリアムズ症候群患者と対照群を識別できる正確性は0.90であった。顔認識技術を用いた場合の検査の正確性は特定の民族母集団毎に分析することで有意に向上した（全比較におけるP-value < 0.001）。コーカサス系、アフリカ系、アジア系、ラテンアメリカ系の正確性はそれぞれ、0.92, 0.96, 0.92, 0.93であった。結論として、ウィリアムズ症候群の世界的母集団でみられる臨床症状は一致していることを示すとともに、臨床医がウィリアムズ症候群の診断を正確に行う際に、顔分析技術が役に立つことを証明した。

【訳者注】中国、台湾などが含まれているにも関わらず、19か国の中には日本は含まれていない。

（２０１８年４月）

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