| H00907 | |
| H番号 | H00907 |
| 名称 | 9q34欠失症候群; Kleefstra 症候群; 9qサブテロメリア欠失症候群 |
| 概要 | Kleefstra syndrome (KLEFS), also known as the 9q subtelomeric deletion syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. About 75% of Kleefstra syndrome is caused by microdeletion of 9q34.3 and 25% by intragenic EHMT1 mutation. Recently, a few patients with loss of function mutations affecting the histone methyltransferase KMT2C were reported. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06523(H00907) Epigenetic regulation by Polycomb complexes |
| 病因遺伝子 | (KLEFS1) EHMT1 [HSA:79813] [KO:K11420] (KLEFS2) KMT2C [HSA:58508] [KO:K09188] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C563043 OMIM: 610253 617768 |
| 文献 | PMID:21910222 著者 Verhoeven WM, Egger JI, Vermeulen K, van de Warrenburg BP, Kleefstra T タイトル Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course. 雑誌 Am J Med Genet A 155A:2409-15 (2011) DOI:10.1002/ajmg.a.34186 PMID:20945554 著者 Kleefstra T, Nillesen WM, Yntema HG タイトル Kleefstra Syndrome 雑誌 GeneReviews (1993) PMID:29069077 著者 Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM タイトル Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 雑誌 PLoS Genet 13:e1006864 (2017) DOI:10.1371/journal.pgen.1006864 |