Research & Literature

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.

Moreno-Igoa M, Hernández-Charro B, Bengoa-Alonso A, et al.

BMC medical genetics 2015; (16()):68 doi:10.1186/s12881-015-0211-0.

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

Koolen DA, Pfundt R, Linda K, et al.

European journal of human genetics : EJHG 2016; (24(5)):652-9 doi:10.1038/ejhg.2015.178.

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

Zollino M, Marangi G, Ponzi E, et al.

Journal of medical genetics 2015; (52(12)):804-14 doi:10.1136/jmedgenet-2015-103184.

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

Bernardo P, Madia F, Santulli L, et al.

Brain & development 2016; (38(7)):663-8.

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

Myers KA, Mandelstam SA, Ramantani G, et al.

Epilepsia 2017; (58(6)):1085-1094 doi:10.1111/epi.13746.

Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.

Nascimento GR, Pinto IP, de Melo AV, et al.

Molecular syndromology 2017; (8(3)):155-160 doi:10.1159/000456910.

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.

Arbogast T, Iacono G, Chevalier C, et al.

PLoS genetics 2017; (13(7)):e1006886 doi:10.1371/journal.pgen.1006886.

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.

Morgan AT, Haaften LV, van Hulst K, et al.

European journal of human genetics : EJHG 2018; (26(1)):75-84 doi:10.1038/s41431-017-0035-9.

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.

Clark MM, Stark Z, Farnaes L, et al.

NPJ genomic medicine 2018; (3()):16 doi:10.1038/s41525-018-0053-8.

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

Pediatric dermatology 2019; (36(4)):e97-e98 doi:10.1111/pde.13849.

Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).

Woodfin T, Stoops C, Philips JB, et al.

Molecular genetics & genomic medicine 2019; (7(8)):e829 doi:10.1002/mgg3.829.

Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.

Sabo A, Murdock D, Dugan S, et al.

Molecular genetics & genomic medicine 2020; (8(10)):e1439 doi:10.1002/mgg3.1439.

Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.

Pascolini G, Gaudioso F, Fadda MT, et al.

American journal of medical genetics. Part A 2021; (185(3)):978-981 doi:10.1002/ajmg.a.62006.

Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.

Amenta S, Frangella S, Marangi G, et al.

Journal of medical genetics 2022; (59(2)):189-195 doi:10.1136/jmedgenet-2020-107225.

Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.

Prat D, Katowitz WR, Strong A, Katowitz JA

Ophthalmic genetics 2021; (42(2)):186-188 doi:10.1080/13816810.2020.1868012.

Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.

García-Santiago FA, Martínez-Payo C, Mansilla E, et al.

Molecular genetics & genomic medicine 2021; (9(5)):e1649 doi:10.1002/mgg3.1649.

Koolen-de Vries Syndrome: Preliminary Observations of Topiramate Efficacy.

Paolo P, Matteo F, Rossella L, et al.

Child neurology open 2021; (8()):2329048X211019183 doi:10.1177/2329048X211019183.

Aberrant right subclavian artery leading to prenatal diagnosis of Koolen de Vries syndrome.

Parthenis C, Panagopoulos P

Ginekologia polska 2021; (92(8)):597-598 doi:10.5603/GP.a2021.0157.

Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.

Farnè M, Bernardini L, Capalbo A, et al.

American journal of medical genetics. Part A 2022; (188(2)):692-707 doi:10.1002/ajmg.a.62536.

Genomic architecture and functional effects of potential human inversion supergenes.

Campoy E, Puig M, Yakymenko I, et al.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2022; (377(1856)):20210209 doi:10.1098/rstb.2021.0209.

AAC barriers and facilitators for children with Koolen de Vries syndrome and childhood apraxia of speech: parent perceptions.

Johnston SS, Blue CW, Stegenga SM

Augmentative and alternative communication (Baltimore, Md. : 1985) 2022; (38(3)):148-160 doi:10.1080/07434618.2022.2085626.

Koolen-de Vries syndrome associated with continuous spike-wave in sleep

Khan AQ, Coorg RK, Gill D, et al.

Epileptic disorders : international epilepsy journal with videotape 2022; (24(5)):928-933 doi:10.1684/epd.2022.1452.

Koolen-de Vries syndrome: A de novo missense KANSL1 variant.

Yimenicioglu S, Kocaaga A

Clinical neurology and neurosurgery 2022; (222()):107444 doi:10.1016/j.clineuro.2022.107444.

Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature.

St John M, van Reyk O, Koolen DA, et al.

European journal of human genetics : EJHG 2023; (31(5)):531-540 doi:10.1038/s41431-022-01230-7.

Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review.

Ko MH, Chen HJ

Children (Basel, Switzerland) 2023; (10(3)) doi:10.3390/children10030501.

The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.

Karamik G, Tuysuz B, Isik E, et al.

American journal of medical genetics. Part A 2023; (191(7)):1814-1825 doi:10.1002/ajmg.a.63207.

Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.

Bouman A, Bouwmeester RN, van Vlimmeren LA, et al.

American journal of medical genetics. Part A 2023; (191(9)):2346-2355 doi:10.1002/ajmg.a.63334.

A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.

Awamleh Z, Choufani S, Wu W, et al.

European journal of human genetics : EJHG 2024; (32(3)):324-332 doi:10.1038/s41431-024-01538-6.

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.

Morison LD, Kennis MGP, Rots D, et al.

Journal of medical genetics 2024; (61(6)):578-585 doi:10.1136/jmg-2023-109702.

Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.

Pedicone C, Weitzman SA, Renton AE, Goate AM

Molecular neurodegeneration 2024; (19(1)):43 doi:10.1186/s13024-024-00731-x.

Koolen-de Vries Syndrome: a journey from diagnosis to treatments.

Pfalzer AC, Ivers B, Haynam A, et al.

Therapeutic advances in rare disease 2024; (5()):26330040241265414 doi:10.1177/26330040241265414.

Neuroimaging of Koolen-De Vries Syndrome: A Rare Genetic Disorder.

Houser K, Esteves S, Kuwabara MS

Cureus 2025; (17(2)):e79194 doi:10.7759/cureus.79194.

Reevaluating Electroencephalography Monitoring in Koolen-de Vries Syndrome: A Case of Delayed Focal Impaired Consciousness Seizure Diagnosis.

Nazari R, Nayeni M, Sakhamuru P, et al.

Cureus 2025; (17(5)):e83693 doi:10.7759/cureus.83693.

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.

Birnbaum R, Slovik M, Zenvirt S, et al.

Clinical genetics 2026; (109(3)):529-538 doi:10.1111/cge.70079.

Diagnostic performance of chromosomal microarray and whole exome sequencing in fetal structural anomalies: a single-center retrospective study.

Özer L, Aktuna S, Ünsal E

BMC pregnancy and childbirth 2025; (25(1)):1029 doi:10.1186/s12884-025-08167-x.

A Complex Case of Koolen-De Vries Syndrome Associated with Hypopituitarism and Type 1 Diabetes Mellitus.

Félix Cabral M, Branco Caetano F, Conceição C, et al.

Acta medica portuguesa 2025; (38(12)):808-811 doi:10.20344/amp.22709.

Improving variant interpretation and diagnosis in Koolen-de Vries syndrome through a curated genotype-phenotype repository.

Huang H, Geng J, Long Y, et al.

Molecular genetics and genomics : MGG 2025; (301(1)):10 doi:10.1007/s00438-025-02322-x.