KEGG   DISEASE: Kleefstra syndromeHelp
Entry
H00907                      Disease                                

Name
Kleefstra 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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00907  Kleefstra syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00907  Kleefstra syndrome
BRITE hierarchy
Pathway
hsa00310  Lysine degradation
Gene
(KLEFS1) EHMT1 [HSA:79813] [KO:K11420]
(KLEFS2) KMT2C [HSA:58508] [KO:K09188]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C563043
OMIM: 610253 617768
Reference
  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
Reference
  Authors
Kleefstra T, Nillesen WM, Yntema HG
  Title
Kleefstra Syndrome
  Journal
GeneReviews (1993)
Reference
  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

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