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Koolen de vries syndrome

Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, Elaine H Zackai
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder...
March 2017: American Journal of Medical Genetics. Part A
Claudia Ciaccio, Chiara Dordoni, Marco Ritelli, Marina Colombi
Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing CRHR1, MAPT, IMP5, STH, and KANSL1, or by an intragenic KANSL1 mutation. The majority of the patients reported are pediatric or young adults, and long-term studies able to define the prognosis of the disease are lacking...
2016: Cytogenetic and Genome Research
María Moreno Samos, Esther Eugenia Moreno Medinilla, Jacinto Luis Martínez Antón, Antonio Urda Cardona
No abstract text is available yet for this article.
March 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Claudia J M van Amen-Hellebrekers, Sandra Jansen, Rolph Pfundt, Janneke H Schuurs-Hoeijmakers, David A Koolen, Carlo L Marcelis, Nicole de Leeuw, Bert B A de Vries
We report four patients with a similar gain in 5p13.2 encompassing a single gene: SLC1A3. Behavioural problems resembling ADHD and/or autism-like features are observed which is in line with the glial glutamate transporter role of SLC1A3. We consider an association between SLC1A3 and the behavioural problems which can also be considered a contributing factor to behavioural problems in larger duplications overlapping the 5p13 microduplication syndrome region.
August 2016: European Journal of Medical Genetics
Pia Bernardo, Francesca Madia, Lia Santulli, Luigi Del Gaudio, Carmela Caccavale, Federico Zara, Monica Traverso, Mario Cirillo, Salvatore Striano, Antonietta Coppola
The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, was first described in 2006 in individuals with intellectual disabilities and organ abnormalities. We report the clinical, instrumental, cytogenetic and molecular investigations of a boy admitted for epilepsy and intellectual disabilities...
August 2016: Brain & Development
David A Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E Veenstra-Knol, Jessie H Conta, Ana Maria Fortuna, Gabriele Gillessen-Kaesbach, Sarah Dugan, Sara Halbach, Omar A Abdul-Rahman, Heather M Winesett, Wendy K Chung, Marguerite Dalton, Petia S Dimova, Teresa Mattina, Katrina Prescott, Hui Z Zhang, Howard M Saal, Jayne Y Hehir-Kwa, Marjolein H Willemsen, Charlotte W Ockeloen, Marjolijn C Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S Brooks, Sarina G Kant, Erica H Gerkes, Helen V Firth, Katrin Õunap, Lynne M Bird, Diane Masser-Frye, Jennifer R Friedman, Modupe A Sokunbi, Abhijit Dixit, Miranda Splitt, Mary K Kukolich, Julie McGaughran, Bradley P Coe, Jesús Flórez, Nael Nadif Kasri, Han G Brunner, Elizabeth M Thompson, Jozef Gecz, Corrado Romano, Evan E Eichler, Bert B A de Vries
The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies...
May 2016: European Journal of Human Genetics: EJHG
Marjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, Willy M Nillesen, Ernie M H F Bongers, Anna Castells-Nobau, Lenke Asztalos, Erika Viragh, Bregje W M van Bon, Emre Tezel, Joris A Veltman, Han G Brunner, Bert B A de Vries, Joep de Ligt, Helger G Yntema, Hans van Bokhoven, Bertrand Isidor, Cédric Le Caignec, Elsa Lorino, Zoltan Asztalos, David A Koolen, Lisenka E L M Vissers, Annette Schenck, Tjitske Kleefstra
BACKGROUND: GATA zinc finger domain containing 2B (GATAD2B) encodes a subunit of the MeCP1-Mi-2/nucleosome remodelling and deacetylase complex involved in chromatin modification and regulation of transcription. We recently identified two de novo loss-of-function mutations in GATAD2B by whole exome sequencing in two unrelated individuals with severe intellectual disability. METHODS: To identify additional individuals with GATAD2B aberrations, we searched for microdeletions overlapping with GATAD2B in inhouse and international databases, and performed targeted Sanger sequencing of the GATAD2B locus in a selected cohort of 80 individuals based on an overlap with the clinical features in the two index cases...
August 2013: Journal of Medical Genetics
P Makrythanasis, B W van Bon, M Steehouwer, B Rodríguez-Santiago, M Simpson, P Dias, B M Anderlid, P Arts, M Bhat, B Augello, E Biamino, E M H F Bongers, M Del Campo, I Cordeiro, A M Cueto-González, I Cuscó, C Deshpande, E Frysira, L Izatt, R Flores, E Galán, B Gener, C Gilissen, S M Granneman, J Hoyer, H G Yntema, C M Kets, D A Koolen, C l Marcelis, A Medeira, L Micale, S Mohammed, S A de Munnik, A Nordgren, S Psoni, W Reardon, N Revencu, T Roscioli, M Ruiterkamp-Versteeg, H G Santos, J Schoumans, J H M Schuurs-Hoeijmakers, M C Silengo, L Toledo, T Vendrell, I van der Burgt, B van Lier, C Zweier, A Reymond, R C Trembath, L Perez-Jurado, J Dupont, B B A de Vries, H G Brunner, J A Veltman, G Merla, S E Antonarakis, A Hoischen
Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for KS (MLL2-Kabuki score 0-10). Sequencing of the full coding region and intron-exon boundaries of MLL2 identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice-site mutations, 34 of which were novel...
December 2013: Clinical Genetics
Jos I M Egger, Ellen Wingbermühle, Willem M A Verhoeven, Marije Dijkman, Sina Radke, Ellen R A de Bruijn, Bert de Vries, Roy P C Kessels, David Koolen
The 17q21.31 microdeletion syndrome with its characteristic features including developmental delay, moderate intellectual disability, facial dysmorphisms, and anomalies of the brain and multiple organ systems was recently described. As to its behavioral profile, scarce data from clinical observations have suggested a remarkably amiable, friendly disposition, to some extent comparable to that observed in Angelman and Williams syndromes. The present study focuses on the various aspects of neurocognitive functioning, particularly social cognition, in patients with 17q21...
January 2013: American Journal of Medical Genetics. Part A
David A Koolen, Jamie M Kramer, Kornelia Neveling, Willy M Nillesen, Heather L Moore-Barton, Frances V Elmslie, Annick Toutain, Jeanne Amiel, Valérie Malan, Anne Chun-Hui Tsai, Sau Wai Cheung, Christian Gilissen, Eugene T P Verwiel, Sarah Martens, Ton Feuth, Ernie M H F Bongers, Petra de Vries, Hans Scheffer, Lisenka E L M Vissers, Arjan P M de Brouwer, Han G Brunner, Joris A Veltman, Annette Schenck, Helger G Yntema, Bert B A de Vries
We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. The KANSL1 protein is an evolutionarily conserved regulator of the chromatin modifier KAT8, which influences gene expression through histone H4 lysine 16 (H4K16) acetylation. RNA sequencing studies in cell lines derived from affected individuals and the presence of learning deficits in Drosophila melanogaster mutants suggest a role for KANSL1 in neuronal processes...
June 2012: Nature Genetics
David A Koolen, Juliette Dupont, Nicole de Leeuw, Lisenka E L M Vissers, Simone P A van den Heuvel, Alyson Bradbury, James Steer, Arjan P M de Brouwer, Leo P Ten Kate, Willy M Nillesen, Bert B A de Vries, Michael J Parker
The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive facial dysmorphism, and congenital anomalies. To date, all individuals reported with this syndrome have been simplex patients, resulting from de novo deletions. Here, we report sibling recurrence of the 17q21.31 microdeletion syndrome in two independent families. In both families, the mother was confirmed to be the parent-of-origin for the 17q21.31 deletion. Fluorescence in situ hybridisation analyses in buccal mucosa cells, of the mother of family 1, identified monosomy 17q21...
July 2012: European Journal of Human Genetics: EJHG
Bregje W M van Bon, David A Koolen, Louise Brueton, Dominic McMullan, Klaske D Lichtenbelt, Lesley C Adès, Gregory Peters, Kate Gibson, Susan Moloney, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, Fausta Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan P de Brouwer, Joris A Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, Santina Reitano, Daniela Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert B A de Vries
Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, we report the molecular and clinical characterisation of nine new 2q23.1 deletion patients and a clinical update on two previously reported patients. All patients were mentally retarded with pronounced speech delay and additional abnormalities including short stature, seizures, microcephaly and coarse facies...
February 2010: European Journal of Human Genetics: EJHG
B W M van Bon, H C Mefford, B Menten, D A Koolen, A J Sharp, W M Nillesen, J W Innis, T J L de Ravel, C L Mercer, M Fichera, H Stewart, L E Connell, K Ounap, K Lachlan, B Castle, N Van der Aa, C van Ravenswaaij, M A Nobrega, C Serra-Juhé, I Simonic, N de Leeuw, R Pfundt, E M Bongers, C Baker, P Finnemore, S Huang, V K Maloney, J A Crolla, M van Kalmthout, M Elia, G Vandeweyer, J P Fryns, S Janssens, N Foulds, S Reitano, K Smith, S Parkel, B Loeys, C G Woods, A Oostra, F Speleman, A C Pereira, A Kurg, L Willatt, S J L Knight, J R Vermeesch, C Romano, J C Barber, G Mortier, L A Pérez-Jurado, F Kooy, H G Brunner, E E Eichler, T Kleefstra, B B A de Vries
BACKGROUND: Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental retardation and epilepsy. METHODS: To assess further the clinical implications of this novel 15q13.3 microdeletion syndrome, 18 new probands with a deletion were molecularly and clinically characterised. In addition, we evaluated the characteristics of a family with a more proximal deletion between BP3 and BP4...
August 2009: Journal of Medical Genetics
D A Koolen, A J Sharp, J A Hurst, H V Firth, S J L Knight, A Goldenberg, P Saugier-Veber, R Pfundt, L E L M Vissers, A Destrée, B Grisart, L Rooms, N Van der Aa, M Field, A Hackett, K Bell, M J M Nowaczyk, G M S Mancini, P J Poddighe, C E Schwartz, E Rossi, M De Gregori, L L Antonacci-Fulton, M D McLellan, J M Garrett, M A Wiechert, T L Miner, S Crosby, R Ciccone, L Willatt, A Rauch, M Zenker, S Aradhya, M A Manning, T M Strom, J Wagenstaller, A C Krepischi-Santos, A M Vianna-Morgante, C Rosenberg, S M Price, H Stewart, C Shaw-Smith, H G Brunner, A O M Wilkie, J A Veltman, O Zuffardi, E E Eichler, B B A de Vries
BACKGROUND: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. AIM: We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. RESULTS: We estimate the prevalence of the syndrome to be 1 in 16,000 and show that it is highly underdiagnosed...
November 2008: Journal of Medical Genetics
B W M van Bon, D A Koolen, R Borgatti, A Magee, S Garcia-Minaur, L Rooms, W Reardon, M Zollino, M C Bonaglia, M De Gregori, F Novara, R Grasso, R Ciccone, H A van Duyvenvoorde, A M Aalbers, R Guerrini, E Fazzi, W M Nillesen, S McCullough, S G Kant, C L Marcelis, R Pfundt, N de Leeuw, D Smeets, E A Sistermans, J M Wit, B C Hamel, H G Brunner, F Kooy, O Zuffardi, B B A de Vries
BACKGROUND: Patients with a microscopically visible deletion of the distal part of the long arm of chromosome 1 have a recognisable phenotype, including mental retardation, microcephaly, growth retardation, a distinct facial appearance and various midline defects including corpus callosum abnormalities, cardiac, gastro-oesophageal and urogenital defects, as well as various central nervous system anomalies. Patients with a submicroscopic, subtelomeric 1qter deletion have a similar phenotype, suggesting that the main phenotype of these patients is caused by haploinsufficiency of genes in this region...
June 2008: Journal of Medical Genetics
Sascha Vermeer, David A Koolen, Gepke Visser, Hein J L Brackel, Ineke van der Burgt, Nicole de Leeuw, Michèl A A P Willemsen, Erik A Sistermans, Rolph Pfundt, Bert B A de Vries
A de novo 4.1-megabase microdeletion of chromosome 1p34.2p34.3 has been identified by array-based comparative genomic hybridization in a young male with severely delayed development, microcephaly, pronounced hypotonia, and facial dysmorphism. The deleted region encompasses 48 genes, among them the glucose transporter 1 (SLC2A1 or GLUT1) gene. The deletion of the GLUT1 gene was in line with the abnormal ratio of cerebrospinal fluid (CSF) glucose to blood glucose, indicative of GLUT1 deficiency syndrome (MIM #606777)...
May 2007: Developmental Medicine and Child Neurology
David A Koolen, Lisenka E L M Vissers, Rolph Pfundt, Nicole de Leeuw, Samantha J L Knight, Regina Regan, R Frank Kooy, Edwin Reyniers, Corrado Romano, Marco Fichera, Albert Schinzel, Alessandra Baumer, Britt-Marie Anderlid, Jacqueline Schoumans, Nine V Knoers, Ad Geurts van Kessel, Erik A Sistermans, Joris A Veltman, Han G Brunner, Bert B A de Vries
Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.
September 2006: Nature Genetics
David A Koolen, Jos Herbergs, Joris A Veltman, Rolph Pfundt, Hans van Bokhoven, Hans Stroink, Erik A Sistermans, Han G Brunner, Ad Geurts van Kessel, Bert B A de Vries
Holoprosencephaly (HPE) is the most common developmental defect affecting the forebrain and midface in humans. The aetiology of HPE is highly heterogeneous and includes both environmental and genetic factors. Here we report on a boy with mild mental retardation, lobar HPE, epilepsy, mild pyramidal syndrome of the legs, ventricular septal defect, vesicoureteral reflux, preaxial polydactyly, and facial dysmorphisms. Genome-wide tiling path resolution array based comparative genomic hybridisation (array CGH) revealed a de novo copy-number gain at 5q35...
2006: Journal of Human Genetics
Mariken Ruiter, David A Koolen, Rolph Pfundt, Nicole de Leeuw, Harry M J Klinkers, Erik A Sistermans, Joris A Veltman, Bert B A de Vries
We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24...
July 2006: Clinical Dysmorphology
Tjitske Kleefstra, David A Koolen, Willy M Nillesen, Nicole de Leeuw, Ben C J Hamel, Joris A Veltman, Erik A Sistermans, Hans van Bokhoven, Conny van Ravenswaay, Bert B A de Vries
In a female patient with mild mental retardation an interstitial subtelomeric 9q34.3 deletion was identified by a multiplex ligation-dependent probe amplification (MLPA) based screen for subtelomeric abnormalities. Further characterization of the deletion by high-resolution tiling path array-based comparative genomic hybridization (array CGH) revealed a size of 2.2 Mb. The woman lacked the typical 9qter deletion phenotype characteristics, which is inline with the finding that both Eu-HMTase1 (EHMT) genes were present...
March 15, 2006: American Journal of Medical Genetics. Part A
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