KEGG DISEASE: Koolen-De Vries syndrome

DISEASE: Koolen-De Vries syndrome

Entry

H02121                      Disease

Name

Koolen-De Vries syndrome;
Chromosome 17q21.31 deletion syndrome;
Microdeletion 17q21.31 syndrome

Description

Chromosome 17q21.31 deletion syndrome, also known as Koolen-de Vries syndrome, is a clinically recognizable multisystem disorder characterized by mild- to-moderate intellectual disability, hypotonia, and characteristic dysmorphic facial features. Other clinically important features include epilepsy, heart defects, and urogenital anomalies. The syndrome was initially described in association with microdeletions at the 17q21.31 locus; however, heterozygous mutations in KANSL1, a gene within the common deletion region, can produce the phenotype as well.

Category

Chromosomal abnormality

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD44  Deletions of the autosomes
    H02121  Koolen-De Vries syndrome

Gene

KANSL1 [HSA:284058] [KO:K18400]

Other DBs

ICD-11:

LD44.H0

MeSH:

C566476

OMIM:

610443

Reference

PMID:28440867

Authors

Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE

Title

The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.

Journal

Epilepsia 58:1085-1094 (2017)
DOI:10.1111/epi.13746

Reference

PMID:22544363

Authors

Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB

Title

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

Journal

Nat Genet 44:639-41 (2012)
DOI:10.1038/ng.2262

Reference

PMID:22544367

Authors

Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G

Title

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Journal

Nat Genet 44:636-8 (2012)
DOI:10.1038/ng.2257

Reference

PMID:26306646

Authors

Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Ounap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M, Kukolich MK, McGaughran J, Coe BP, Florez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB

Title

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Journal

Eur J Hum Genet 24:652-9 (2016)
DOI:10.1038/ejhg.2015.178

LinkDB

» Japanese version

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