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Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome

MedGen UID:
992590
•Concept ID:
CN311570
•
Disease or Syndrome
Synonyms: 17q21.31 deletion syndrome; 17q21.31 microdeletion syndrome; CHROMOSOME 17q21.31 DELETION SYNDROME; Chromosome 17q21.31 microdeletion syndrome; Monosomy 17q21.31
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018216
Orphanet: ORPHA363958

Definition

Koolen-de Vries syndrome (KDVS) is characterized by moderately to severely impaired intellectual development, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series.
Jing XY, Huang LY, Zhen L, Han J, Li DZ
J Obstet Gynaecol 2019 Apr;39(3):323-327. Epub 2019 Jan 11 doi: 10.1080/01443615.2018.1519693. PMID: 30634886

Recent clinical studies

Etiology

Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.
Bouman A, Bouwmeester RN, van Vlimmeren LA, Burger P, Mandel JL, de Vries BBA, de Kleuver M, Klein WM, Geelen JM, Koolen DA
Am J Med Genet A 2023 Sep;191(9):2346-2355. Epub 2023 Jun 23 doi: 10.1002/ajmg.a.63334. PMID: 37350176
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M
J Med Genet 2022 Feb;59(2):189-195. Epub 2020 Dec 24 doi: 10.1136/jmedgenet-2020-107225. PMID: 33361104
Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.
Pascolini G, Gaudioso F, Fadda MT, Laino L, Ferraris A, Grammatico P
Am J Med Genet A 2021 Mar;185(3):978-981. Epub 2020 Dec 12 doi: 10.1002/ajmg.a.62006. PMID: 33314579
Atypical Café-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).
Han AM, Kusari A, Soeprono F, Eichenfield LF
Pediatr Dermatol 2019 Jul;36(4):e97-e98. Epub 2019 May 24 doi: 10.1111/pde.13849. PMID: 31125459
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
Epilepsia 2017 Jun;58(6):1085-1094. Epub 2017 Apr 25 doi: 10.1111/epi.13746. PMID: 28440867

Diagnosis

The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.
Karamik G, Tuysuz B, Isik E, Yilmaz A, Alanay Y, Sunamak EC, Durmusalioglu EA, Ozkinay F, Cetin GO, Ozturk N, Mihci E, Nur B
Am J Med Genet A 2023 Jul;191(7):1814-1825. Epub 2023 Apr 13 doi: 10.1002/ajmg.a.63207. PMID: 37053206
Koolen-de Vries syndrome associated with continuous spike-wave in sleep.
Khan AQ, Coorg RK, Gill D, Marini C, Myers KA
Epileptic Disord 2022 Oct 1;24(5):928-933. doi: 10.1684/epd.2022.1452. PMID: 35811432
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M
J Med Genet 2022 Feb;59(2):189-195. Epub 2020 Dec 24 doi: 10.1136/jmedgenet-2020-107225. PMID: 33361104
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.
Dingemans AJM, Stremmelaar DE, van der Donk R, Vissers LELM, Koolen DA, Rump P, Hehir-Kwa JY, de Vries BBA
Eur J Hum Genet 2021 Sep;29(9):1418-1423. Epub 2021 Feb 18 doi: 10.1038/s41431-021-00824-x. PMID: 33603161Free PMC Article
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
Ciaccio C, Dordoni C, Ritelli M, Colombi M
Cytogenet Genome Res 2016;150(1):40-45. Epub 2016 Nov 17 doi: 10.1159/000452724. PMID: 27852077

Therapy

Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice.
Li T, Lu D, Yao C, Li T, Dong H, Li Z, Xu G, Chen J, Zhang H, Yi X, Zhu H, Liu G, Wen K, Zhao H, Gao J, Zhang Y, Han Q, Li T, Zhang W, Zhao J, Li T, Bai Z, Song M, He X, Zhou T, Xia Q, Li A, Pan X
Nat Commun 2022 Feb 17;13(1):931. doi: 10.1038/s41467-022-28613-0. PMID: 35177641Free PMC Article
Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
Woodfin T, Stoops C, Philips JB 3rd, Lose E, Mikhail FM, Hurst A
Mol Genet Genomic Med 2019 Aug;7(8):e829. Epub 2019 Jun 28 doi: 10.1002/mgg3.829. PMID: 31250568Free PMC Article
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
Epilepsia 2017 Jun;58(6):1085-1094. Epub 2017 Apr 25 doi: 10.1111/epi.13746. PMID: 28440867

Prognosis

Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M
J Med Genet 2022 Feb;59(2):189-195. Epub 2020 Dec 24 doi: 10.1136/jmedgenet-2020-107225. PMID: 33361104
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.
Prat D, Katowitz WR, Strong A, Katowitz JA
Ophthalmic Genet 2021 Apr;42(2):186-188. Epub 2021 Jan 3 doi: 10.1080/13816810.2020.1868012. PMID: 33393407
Atypical Café-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).
Han AM, Kusari A, Soeprono F, Eichenfield LF
Pediatr Dermatol 2019 Jul;36(4):e97-e98. Epub 2019 May 24 doi: 10.1111/pde.13849. PMID: 31125459
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.
Morgan AT, Haaften LV, van Hulst K, Edley C, Mei C, Tan TY, Amor D, Fisher SE, Koolen DA
Eur J Hum Genet 2018 Jan;26(1):75-84. Epub 2017 Dec 11 doi: 10.1038/s41431-017-0035-9. PMID: 29225339Free PMC Article
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
Ciaccio C, Dordoni C, Ritelli M, Colombi M
Cytogenet Genome Res 2016;150(1):40-45. Epub 2016 Nov 17 doi: 10.1159/000452724. PMID: 27852077

Clinical prediction guides

Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.
Brand F, Vijayananth A, Hsieh TC, Schmidt A, Peters S, Mangold E, Cremer K, Bender T, Sivalingam S, Hundertmark H, Knaus A, Engels H, Krawitz PM, Perne C
Hum Mutat 2022 Nov;43(11):1659-1665. Epub 2022 Oct 2 doi: 10.1002/humu.24467. PMID: 36104871
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M
J Med Genet 2022 Feb;59(2):189-195. Epub 2020 Dec 24 doi: 10.1136/jmedgenet-2020-107225. PMID: 33361104
Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.
Pascolini G, Gaudioso F, Fadda MT, Laino L, Ferraris A, Grammatico P
Am J Med Genet A 2021 Mar;185(3):978-981. Epub 2020 Dec 12 doi: 10.1002/ajmg.a.62006. PMID: 33314579
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
Epilepsia 2017 Jun;58(6):1085-1094. Epub 2017 Apr 25 doi: 10.1111/epi.13746. PMID: 28440867
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
Ciaccio C, Dordoni C, Ritelli M, Colombi M
Cytogenet Genome Res 2016;150(1):40-45. Epub 2016 Nov 17 doi: 10.1159/000452724. PMID: 27852077

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