Koolen-De Vries syndrome

Definition:

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.

References:

[1]. David A Koolen, et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29;44(6):639-41. [Content Brief]

[2]. David A Koolen, et al. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet. 2016 May;24(5):652-9. [Content Brief]

[3]. Kenneth A Myers, et al. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. Epilepsia. 2017 Jun;58(6):1085-1094. [Content Brief]

[4]. Marcella Zollino, et al. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Nat Genet. 2012 Apr 29;44(6):636-8. [Content Brief]

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