エントリ 名称 Koolen-De Vries 症候群;
概要 Chromosome 17q21.31 deletion syndrome, also known as Koolen-de Vries syndrome, is a clinically recognizable multisystem disorder characterized by mild- to-moderate intellectual disability, hypotonia, and characteristic dysmorphic facial features. Other clinically important features include epilepsy, heart defects, and urogenital anomalies. The syndrome was initially described in association with microdeletions at the 17q21.31 locus; however, heterozygous mutations in KANSL1, a gene within the common deletion region, can produce the phenotype as well.
カテゴリ 染色体異常
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy 病因遺伝子 リンク 文献 著者 Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
タイトル The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
雑誌 文献 著者 Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB
タイトル Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
雑誌 文献 著者 Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G
タイトル Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
雑誌 文献 著者 Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Ounap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M, Kukolich MK, McGaughran J, Coe BP, Florez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB
タイトル The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
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