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Chromosome 9q deletion syndrome(KLEFS1)

MedGen UID:
208639
Concept ID:
C0795833
Disease or Syndrome
Synonyms: 9q SUBTELOMERIC DELETION SYNDROME; 9q- SYNDROME; 9q34 subtelomeric deletion syndrome; CHROMOSOME 9q34.3 DELETION SYNDROME; Kleefstra Syndrome; KLEEFSTRA SYNDROME 1; KLEFS1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Sporadic (HPO, OMIM)
SNOMED CT: Kleefstra syndrome (724207001)
 
Gene (location): EHMT1
OMIM®: 610253
Orphanet: ORPHA261494

Disease characteristics

Excerpted from the GeneReview: Kleefstra Syndrome
Kleefstra syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate to severe spectrum of intellectual disability although a few individuals have mild delay and total IQ around 70. Although most have severe expressive speech delay with little speech development, general language development is usually at a higher level, making nonverbal communication possible. A complex pattern of other findings can also be observed including heart defects, renal/urologic defects, genital defects in males, severe respiratory infections, epilepsy/febrile seizures, autistic-like features in childhood, and extreme apathy or catatonic-like features after puberty. [from GeneReviews]
Authors:
Tjitske Kleefstra  |  Willy M Nillesen  |  Helger G Yntema   view full author information

Additional descriptions

From OMIM
Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra Syndrome KLEFS2 (617768) is caused by mutation in the KMT2C gene (606833) on chromosome 7q36.  http://www.omim.org/entry/610253
From GHR
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly). Distinctive facial features include eyebrows that grow together in the middle (synophrys), widely spaced eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), nostrils that open to the front rather than downward (anteverted nares), a protruding jaw (prognathism), rolled out (everted) lips, and a large tongue (macroglossia). Affected individuals may have a high birth weight and childhood obesity.People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a tendency to develop severe respiratory infections. During childhood they may exhibit features of autism or related developmental disorders affecting communication and social interaction. In adolescence, they may develop a general loss of interest and enthusiasm (apathy) or unresponsiveness (catatonia).  https://ghr.nlm.nih.gov/condition/kleefstra-syndrome

Clinical features

Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
Obsessive-compulsive behavior
MedGen UID:
109373
Concept ID:
C0600104
Mental or Behavioral Dysfunction
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
MedGen UID:
767172
Concept ID:
C3554258

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 9q deletion syndrome
Follow this link to review classifications for Chromosome 9q deletion syndrome in Orphanet.

Recent clinical studies

Etiology

Blanchard M, Dubourg C, Pasquier L, Odent S, Lucas J, Quélin C, Launay E, Akloul L, Henry C, Belaud-Rotureau MA, Dugay F, Jaillard S
Eur J Med Genet 2014 Apr;57(5):195-9. Epub 2014 Jan 31 doi: 10.1016/j.ejmg.2013.12.010. PMID: 24486987
Chen CP, Lin SP, Wang TH, Chen YJ, Chen M, Wang W
Prenat Diagn 2006 Aug;26(8):725-9. doi: 10.1002/pd.1496. PMID: 16927391
Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID
Am J Med Genet A 2004 Aug 1;128A(4):340-51. doi: 10.1002/ajmg.a.30136. PMID: 15264279
Shimkets R, Gailani MR, Siu VM, Yang-Feng T, Pressman CL, Levanat S, Goldstein A, Dean M, Bale AE
Am J Hum Genet 1996 Aug;59(2):417-22. PMID: 8755929Free PMC Article
Schofield D, West DC, Anthony DC, Marshal R, Sklar J
Am J Pathol 1995 Feb;146(2):472-80. PMID: 7856756Free PMC Article

Diagnosis

Hou QF, Wu D, Chu Y, Liao SX
Taiwan J Obstet Gynecol 2016 Dec;55(6):867-870. doi: 10.1016/j.tjog.2016.11.001. PMID: 28040136
Blanchard M, Dubourg C, Pasquier L, Odent S, Lucas J, Quélin C, Launay E, Akloul L, Henry C, Belaud-Rotureau MA, Dugay F, Jaillard S
Eur J Med Genet 2014 Apr;57(5):195-9. Epub 2014 Jan 31 doi: 10.1016/j.ejmg.2013.12.010. PMID: 24486987
Mucciolo M, Magini P, Marozza A, Mongelli P, Mencarelli MA, Hayek G, Tavalazzi F, Mari F, Seri M, Renieri A, Graziano C
Am J Med Genet A 2014 Mar;164A(3):685-90. Epub 2013 Dec 20 doi: 10.1002/ajmg.a.36361. PMID: 24376033
Tug E, Cavdarli B, Karaoguz MY, Percin FE
Genet Couns 2012;23(4):465-71. PMID: 23431745
Verhoeven WMA, Kleefstra T, Egger JIM
Am J Med Genet B Neuropsychiatr Genet 2010 Mar 5;153B(2):536-541. doi: 10.1002/ajmg.b.31015. PMID: 19642112

Therapy

Boggula VR, Shukla A, Danda S, Hariharan SV, Nampoothiri S, Kumar R, Phadke SR
Indian J Med Res 2014 Jan;139(1):66-75. PMID: 24604040Free PMC Article

Prognosis

Fu F, Deng Q, Lei TY, Li R, Jing XY, Yang X, Liao C
Arch Gynecol Obstet 2017 Nov;296(5):929-940. Epub 2017 Sep 13 doi: 10.1007/s00404-017-4518-2. PMID: 28905115
Verhoeven WM, Egger JI, Vermeulen K, van de Warrenburg BP, Kleefstra T
Am J Med Genet A 2011 Oct;155A(10):2409-15. Epub 2011 Sep 9 doi: 10.1002/ajmg.a.34186. PMID: 21910222
Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R
Genet Med 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa. PMID: 20531206
Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG
J Med Genet 2009 Sep;46(9):598-606. Epub 2009 Mar 4 doi: 10.1136/jmg.2008.062950. PMID: 19264732
Czuchlewski DR, Andrews J, Madden R, Clericuzio CL, Zhang QY
J Pediatr Hematol Oncol 2008 Nov;30(11):865-8. doi: 10.1097/MPH.0b013e31818a958a. PMID: 18989166

Clinical prediction guides

Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R
Genet Med 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa. PMID: 20531206
Verhoeven WMA, Kleefstra T, Egger JIM
Am J Med Genet B Neuropsychiatr Genet 2010 Mar 5;153B(2):536-541. doi: 10.1002/ajmg.b.31015. PMID: 19642112
Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG
J Med Genet 2009 Sep;46(9):598-606. Epub 2009 Mar 4 doi: 10.1136/jmg.2008.062950. PMID: 19264732
Busche A, Klopocki E, Ullmann R, Mundlos S, Horn D
Eur J Med Genet 2008 Nov-Dec;51(6):615-21. Epub 2008 Jul 12 doi: 10.1016/j.ejmg.2008.06.006. PMID: 18674647
Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H
J Med Genet 2005 Apr;42(4):299-306. doi: 10.1136/jmg.2004.028464. PMID: 15805155Free PMC Article

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