| H00907 | |
| H number | H00907 |
| Name | Kleefstra syndrome; Chromosome 9q34.3 deletion syndrome; 9q Subtelomeric deletion syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | nt06523(H00907) Epigenetic regulation by Polycomb complexes |
| Gene | (KLEFS1) EHMT1 [HSA:79813] [KO:K11420] (KLEFS2) KMT2C [HSA:58508] [KO:K09188] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C563043 OMIM: 610253 617768 |
| Reference | PMID:21910222 AUTHORS Verhoeven WM, Egger JI, Vermeulen K, van de Warrenburg BP, Kleefstra T TITLE Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course. JOURNAL Am J Med Genet A 155A:2409-15 (2011) DOI:10.1002/ajmg.a.34186 PMID:20945554 AUTHORS Kleefstra T, Nillesen WM, Yntema HG TITLE Kleefstra Syndrome JOURNAL GeneReviews (1993) PMID:29069077 AUTHORS 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 TITLE Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. JOURNAL PLoS Genet 13:e1006864 (2017) DOI:10.1371/journal.pgen.1006864 |