Chromosome Rearrangements and Disease Group

	Chromosome rearrangements and disease group
	Disease-associated balanced chromosome rearrangements
	X-linked mental retardation
	Team
	Publications

Selected publications

2011

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.

Kunde SA, Musante L, Grimme A, Fischer U, Müller E, Wanker EE, Kalscheuer VM. (2011) The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules. Hum Mol Genet. 2011 Oct 4. [Epub ahead of print]

Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM*, Kunst HP*, Kremer H*. (2011) Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet. 2011 May 13;88(5):628-34. Epub 2011 May 5. * Equal contribution

Gilling M, Lind-Thomsen A, Mang Y, Bak M, Møller M, Ullmann R, Kristoffersson U, Kalscheuer VM, Henriksen KF, Bugge M, Tümer Z, Tommerup N. (2011) Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. Eur J Med Genet. 2011 Jul-Aug;54(4):e383-8. Epub 2011 Mar 21.

Rademacher N, Hambrock M, Fischer U, Moser B, Ceulemans B, Lieb W, Boor R, Stefanova I, Gillessen-Kaesbach G, Runge C, Korenke GC, Spranger S, Laccone F, Tzschach A, Kalscheuer VM. (2011) Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics. 2011 May;12(2):165-7. Epub 2011 Feb 12.

Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW. (2011) Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet. 2011 Jun;19(6):717-20. Epub 2011 Jan 26.

Pagan C, Botros HG, Poirier K, Dumaine A, Jamain S, Moreno S, de Brouwer A, Van Esch H, Delorme R, Launay JM, Tzschach A, Kalscheuer V, Lacombe D, Briault S, Laumonnier F, Raynaud M, van Bon BW, Willemsen MH, Leboyer M, Chelly J, Bourgeron T. (2011) Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability. BMC Med Genet. 2011 Jan 20;12:17.

2010

Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC. (2010) WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 87(4):465-79.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. (2010) Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010 Nov;42(11):1021-6.

Goswami C, Rademacher N, Smalla KH, Kalscheuer V, Ropers HH, Gundelfinger ED, Hucho T. (2010) TRPV1 acts as a synaptic protein and regulates vesicle recycling. J Cell Sci. 123:2045-57.

Musante L, Kunde SA, Sulistio TO, Fischer U, Grimme A, Frints SG, Schwartz CE, Martínez F, Romano C, Ropers HH, Kalscheuer VM. (2010) Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Hum Mutat. 31(1):90-8.

Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P. (2010) Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly. Am J Hum Genet. 86(2):185-195.

Tzschach A, Menzel C, Erdogan F, Istifli ES, Rieger M, Ovens-Raeder A, Macke A, Ropers HH, Ullmann R, Kalscheuer V. (2010) Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. Am J Med Genet A. 152A(4):1008-12.

Córdova-Fletes C, Rademacher N, Müller I, Mundo-Ayala J, Morales-Jeanhs E, García-Ortiz J, León-Gil A, Rivera H, Domínguez M, Kalscheuer V. (2010) CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. Clin Genet. 77(1):92-6.

Tzschach A, Bisgaard AM, Kirchhoff M, Graul-Neumann LM, Neitzel H, Page S, Ahmed A, Müller I, Erdogan F, Ropers HH, Kalscheuer VM, Ullmann R. Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. (2010) Eur J Hum Genet. 77(1):92-6.

Chen W, Ullmann R, Langnick C, Menzel C, Wotschofsky Z, Hu H, Döring A, Hu Y, Kang H, Tzschach A, Hoeltzenbein M, Neitzel H, Markus S, Wiedersberg E, Kistner G, van Ravenswaaij-Arts CM, Kleefstra T, Kalscheuer VM, Ropers HH. (2010) Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. Eur J Hum Genet. 18(5):539-43.

2009

Hu H, Wrogemann K, Kalscheuer V, Tzschach A, Richard H, Haas SA, Menzel C, Bienek M, Froyen G, Raynaud M, Van Bokhoven H, Chelly J, Ropers HH, Chen W. (2009) Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. HUGO J. 3(1-4):41-49.

Kalscheuer VM, Musante L, Fang C, Hoffmann K, Fuchs C, Carta E, Deas E, Venkateswarlu K, Menzel C, Ullmann R, Tommerup N, Dalprà L, Tzschach A, Angelo Selicorni A, Lüscher B, Ropers HH, Harvey K, Harvey RJ. (2009) A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Hum Mutat. 30(1):61-68.

Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V. (2009) Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Eur J Hum Genet. 17(4):420-5.

2008

Kalscheuer VM, Feenstra I, Van Ravenswaaij-Arts CMA, Smeets DFCM, Menzel C, Ullmann R, Musante L, Ropers H-H. (2008). Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. Am J Med Genet Part A. 146A(16):2053-9.

Møller RS, Kübart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP, Menzel C, Ullmann R, Niels Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM. (2008) Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet. 82(5):1165-70.

Chen W, Kalscheuer V, Tzschach A, Menzel C, Ullmann R, Schulz M, Erdogan F, Li N, Kijas Z, Arkesteijn G, Pajares IL, Goetz-Sothmann M, Heinrich U, Rost I, Dufke A, Grasshoff U, Glaeser BG, Vingron M, Ropers HH. (2008) Mapping translocation breakpoints by next-generation sequencing. Genome Res 18(7):1143-9.

2007

Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann LM, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers HH, Ullmann R. (2007) Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation. Hum Genet. 121:501-9.

Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers HH, Ullmann R, Kalscheuer V. (2007) Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. Am J Med Genet A. 143:333-7.

de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC. (2007) Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat. 2:207-8.

Erdogan F, Ullmann R, Chen W, Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach A. (2007) Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am J Med Genet A. 143(2):172-8.

2006

Erdogan F, Chen W, Kirchhoff M, Kalscheuer VM, Hultschig C, Muller I, Schulz R, Menzel C, Bryndorf T, Ropers HH, Ullmann R. (2006) Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet Genome Res. 115:247-53.

Tzschach A, Hoeltzenbein M, Hoffmann K, Menzel C, Beyer A, Ocker V, Wurster G, Raynaud M, Ropers HH, Kalscheuer V, Heilbronner H. (2006) Heterotaxy and cardiact defect in a girl witch chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. Eur J Hum Genet. 14:1317-20.

Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanova E, Volleth M, Haaf T, Kalscheuer VM. (2006) Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. 120:179-86.

Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brondum-Nielsen K, Tommerup N, Ropers HH, Tumer Z, Kalscheuer VM, Thomas NS. (2006) Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans. Am J Hum Genet. 78:878-83.

Cossee M, Demeer B, Blanchet P, Echenne B, Singh D, Hagens O, Antin M, Finck S, Vallee L, Dollfus H, Hegde S, Springell K, Thelma BK, Woods G, Kalscheuer V, Mandel JL. (2006) Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. Eur J Hum Genet. 14:418-425.

Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. (2006) Germline KRAS mutations cause Noonan syndrome. Nat Genet. 38:331-336.

Tagariello A, Heller R, Greven A, Kalscheuer VM, Molter T, Rauch A, Kress W, Winterpacht A. (2006) Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionary conserved non-transcribed region. J Med Genet. 43:534-40.

Dlugaszewska B, Silahtaroglu A, Menzel C, Kubart S, Cohen M, Mundlos S, Tumer Z, Kjaer K, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM (2006) Breakpoints around the HOXD cluster result in various limb malformations. J Med Genet. 43:111-8.

Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gecz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A (2006) Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet. 118:578-90.

Shoichet SA, Duprez L, Hagens O, Waetzig V, Menzel C, Herdegen T, Schweiger S, Dan B, Vamos E, Ropers HH, Kalscheuer VM (2006) Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy. Hum Genet. 118:559-67.

2005

Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM (2005) Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet. 117:536-44

Tumer Z, Henriksen AM, Bache I, Brixen K, Kalscheuer V, Illum N, Rasmussen K, Larsen LA, Tommerup N (2005) Eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome. Am J Med Genet A. 135:339-41

Borg I, Freude K, Kubart S, Hoffmann K, Menzel C, Laccone F, Firth H, Ferguson-Smith MA, Tommerup N, Ropers HH, Sargan D, Kalscheuer VM. (2005) Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur J Hum Genet. 8:921-7

Boonen SE, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen LA, Tommerup N, Brondum-Nielsen K, Tumer Z (2005) Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. Am J Med Genet A 132:324-8

Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, Janecke AR, Tariverdian G, Chelly J, Fryns JP, Van Esch H, Kleefstra T, Hamel B, Moraine C, Gecz J, Turner G, Reinhardt R, Kalscheuer VM, Ropers HH, Lenzner S (2005) Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet. 76:227-36

2004

Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gecz J, Ropers HH, Kalscheuer VM (2004) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:1149-54

Walter S, Sandig K, Hinkel GK, Mitulla B, Ounap K, Sims G, Sitska M, Utermann B, Viertel P, Kalscheuer V, Bartsch O (2004) Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. Am J Med Genet A 128:364-73

Tümer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brondum-Nielsen K (2004) Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. Am J Med Genet A 130:340-4

Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B, Hamel B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gecz J, Lenzner S, Kalscheuer VM, Ropers HH (2004) Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Am J Hum Genet. 75:305-9

Prudlo J, Alber B, Kalscheuer VM, Roemer K, Martin T, Dullinger J, Sittinger H, Niemann S, Heutink P, Ludolph AC, Ropers HH, Zang K, Meyer T (2004) Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS. Ann Neurol 55:134-8

Midro AT, Panasiuk B, Tumer Z, Stankiewicz P, Silahtaroglu A, Lupski JR, Zemanova Z, Stasiewicz-Jarocka B, Hubert E, Tarasow E, Famulski W, Zadrozna-Tolwinska B, Wasilewska E, Kirchhoff M, Kalscheuer V, Michalova K, Tommerup N (2004) Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. Am J Med Genet A 124:179-91

Kleefstra T, Yntema HG, Oudakker AR, Banning MJ, Kalscheuer VM, Chelly J, Moraine C, Ropers HH, Fryns JP, Janssen IM, Sistermans EA, Nillesen WN, de Vries LB, Hamel BC, van Bokhoven H (2004) Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. J Med Genet 41:394-9

Hertz JM, Sivertsen B, Silahtaroglu A, Bugge M, Kalscheuer V, Weber A, Wirth J, Ropers HH, Tommerup N, Tumer Z (2004) Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13). J Med Genet 41:e25

Bache I, Assche EV, Cingoz S, Bugge M, Tumer Z, Hjorth M, Lundsteen C, et al. (2004) An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet 12:993-1000

2003

Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gecz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, Van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BC, Schweiger S, Ropers HH (2003) Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet 35:313-5

Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM (2003) Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet 73:1341-54

Morava É, Bartsch O, Czakó M, Frensel A, Kalscheuer V, Kárteszi J, Kosztolányi G. (2003) Small Inherited Terminal Duplication of 7q with Hydrocephalus, Cleft Palate, Joint Contractures, and Severe Hypotonia. Clin Dysmorphol 12:123-128.

Ropers HH, Hoeltzenbein M, Kalscheuer V, Yntema H, Hamel B, Fryns JP, Chelly J, Partington M, Gecz J, Moraine C (2003) Non-syndromic X-linked mental retardation: where are the missing mutations in Xp11. Trends Genet. 6:316-20.

Frints SG, Jun L, Fryns JP, Devriendt K, Teulingkx R, Berghe LV, Vos BD, Borghgraef M, Chelly J, des Portes V, vanBokhoven H, Hamel B, Ropers HH, Kalscheuer V, Raynaud M, Moraine C, Marynen P, Froyen G (2003) Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene. Am J Med Genet. 119A(3):367-74.

Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gécz J (2003) Disruption of the Serine/Threonine Kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet, 72:1401-11.

Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM. (2003) Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and 5 patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet, 11:201-6.

Meyer T, Alber B, Roemer K, Martin T, Kalscheuer VM, E. Göttert E, Zang KD, Ludolph AC, Ropers HH, Prudlo J (2003) Cytogenetics in sporadic ALS: increased rate of constitutional chromosomal rearrangements. Neurology 60:1348-50.

Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O (2003) Familial MCA/MR syndrome due to inherited cryptic subtelomeric translocation t(18;21)(q22.1;q21.3) with breakpoint at the Down syndrome critical region. J Med Genet, 117:236-44.

2002

Laumonnier F, Ronce N, Hamel BCJ, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Yntema H, Kalscheuer V, Fryns JP, Chelly J, Moraine C and Briault S (2002) Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet 71:1450-1455.

Borg I, Squire M, Menzel, Stout K, Morgan D, Willatt L, O’Brien P, Ferguson Smith MA, Ropers HH, Tommerup N, Kalscheuer VM and Sargan DR (2002) A cryptic de novo deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism. J Med Genet 6:391-9.

Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. (2002) ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 11:981-991.

Yntema HG, Oudakker AR, Kleefstra T, Hamel BCJ, van Bokhoven H, Chelly J, Kalscheuer VM, Fryns J-P, Raynaud M, Moizard M-P, Moraine C. (2002) In frame deletion in MECP2 causes mild nonspecific mental retardation. Am J Med Genet 107: 81-83.