Clinical and molecular characteristics of 1qter microdeletion syndrome: Delineating a critical region for corpus callosum agenesis/hypogenesis

Journal of Medical Genetics

Volumn 45, Issue 6, 2008, Pages 346-354

  Van Bon, B W M ^a   Koolen, D A ^a   Borgatti, R ^b   Magee, A ^c   Garcia Minaur, S ^d   Rooms, L ^e   Reardon, W ^f   Zollino, M ^g   Bonaglia, M C ^c   De Gregori, M ^h   Novara, F ^h   Grasso, R ^b   Ciccone, R ^h   Van Duyvenvoorde, H A ⁱ   Aalbers, A M ⁱ   Guerrini, R ^j   Fazzi, E ^k   Nillesen, W M ^a   McCullough, S ^c   Kant, S G ⁱ   Marcelis, C L ^a   Pfundt, R ^a   De Leeuw, N ^a   Smeets, D ^a   Sistermans, E A ^a   Wit, J M ⁱ   Hamel, B C ^a   Brunner, H G ^a   Kooy, F ^e   Zuffardi, O ^h,l   De Vries, B B A ^a,m   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b SCIENTIFIC INSTITUTE   (Italy)

^c ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^d WESTERN GENERAL HOSPITAL   (United Kingdom)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^g CATHOLIC UNIVERSITY   (Italy)

^h UNIVERSITY OF PAVIA   (Italy)

ⁱ LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^j UNIVERSITY OF FLORENCE   (Italy)

^k C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^l FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^m RUNMC ^*  (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CORPUS CALLOSUM AGENESIS; FEMALE; GENE DELETION; GENETIC ANALYSIS; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CORPUS CALLOSUM; FAMILY; FEMALE; HUMANS; INFANT; MALE; SYNDROME;

EID: 45249089227     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.055830     Document Type: Article

References (21)

1. Mankinen CB, Sears JW, Alvarez VR. Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female. Birth Defects Orig Artic Ser 1976;12:131-6.
2. Johnson VP, Heck LJ, Carter GA, Flom JO. Deletion of the distal long arm of chromosome 1: a definable syndrome. Am J Med Genet 1985;22:685-94.
3. Meinecke P, Vogtel D. A specific syndrome due to deletion of the distal long arm of chromosome 1. Am J Med Genet 1987;28:371-6.
4. Gentile M, Di CA, Volpe P, Pansini A, Nanna P, Valenzano MC, Buonadonna AL. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications. Am J Med Genet A 2003;117:251-4.
5. Murayama K, Greenwood RS, Rao KW, Aylsworth AS. Neurological aspects of del(1q) syndrome. Am J Med Genet 1991;40:488-92.
6. de Vries BB, Knight SJ, Homfray T, Smithson SF, Flint J, Winter RM. Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? J Med Genet 2001;38:175-78.
7. Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di RM, Faravelli F, Dagna BF, Bonaglia M, Bedeschi M, Borgatti R. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet 2001;38:417-20.
8. Bever van Y, Rooms L, Laridon A, Reyniers E, van LR, Scheers S, Wauters J, Kooy RF. Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. Am J Med Genet A 2005;135:91-5.
9. Merritt JL, Zou Y, Jalal SM, Michels VV. Delineation of the cryptic 1qter deletion phenotype. Am J Med Genet A 2007;143:599- 603.
10. Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A 2004;128:352-63.
11. Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet 2007;81:292-303.
12. Hill AD, Chang BS, Hill RS, Garraway LA, Bodell A, Sellers WR, Walsh CA. A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet A 2007;143:1692-8.
13. Puthuran MJ, Rowland-Hill CA, Simpson J, Pairaudeau PW, Mabbott JL, Morris SM, Crow YJ. Chromosome 1q42 deletion and agenesis of the corpus callosum. Am J Med Genet A 2005;138:68-9.
14. Poot M, Kroes HY, Wijst SE VD, Eleveld MJ, Rooms L, Nievelstein RA, Olde WD, Vreuls RC, Hageman G, Kooy F, Hochstenbach R. Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33). Am J Med Genet A 2007;143:1038-44.
15. White S, Kalf M, Liu Q, Villerius M, Engelsma O, Kriek M, Vollebregt E, Bakker B, van Ommen GJ, Breuning MH, den Dunnen JT. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet 2002;71:365-74.
16. de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal S, Nillesen WM, Huys EH, Leeuw N, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA. Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005;77:606-16.
17. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
18. Rooms L, Reyniers E, van LR, Scheers S, Wauters J, Ceulemans B, van den EJ, van BY, Kooy RF. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Hum Mutat 2004;23:17-21.
19. Rice G, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007;81:713-25.
20. Powell SM, Zalkin H, Dixon JE. Cloning and characterization of the cDNA encoding human adenylosuccinate synthetase. FEBS Lett 1992;303:4-10.
21. Yan F, Qian M, Yang F, Cai F, Yuan Z, Lai S, Zhao X, Gou L, Hu Z, Deng H. A novel pro-apoptosis protein PNAS-4 from Xenopus laevis: cloning, expression, purification, and polyclonal antibody production. Biochemistry (Mosc) 2007;72:664-71.