Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 861-868

  Motobayashi, Mitsuo ^a   Nishimura Tadaki, Akira ^b   Inaba, Yuji ^a   Kosho, Tomoki ^a   Miyatake, Satoko ^b   Niimi, Taemi ^a   Nishimura, Takafumi ^a   Wakui, Keiko ^a   Fukushima, Yoshimitsu ^a   Matsumoto, Naomichi ^b   Koike, Kenichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

2q23.1 microdeletion syndrome; Array CGH; Epilepsy; FoSTeS MMBIR; MBD5; Neurological features

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; TOPIRAMATE; ZONISAMIDE;

2Q23.1 MICRODELETION SYNDROME; ARTICLE; BRAIN ATROPHY; CHILD; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; EPC2 GENE; EPILEPTIC STATE; FEMALE; FRONTAL LOBE EPILEPSY; GENE; GROWTH RETARDATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; KIF5C GENE; LYPD6B GENE; MALE; MBD5 GENE; MICROCEPHALY; MYELINATION; NEUROLOGIC DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; PULMONARY ARTERY STENOSIS; SEQUENCE HOMOLOGY;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; FRUCTOSE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEIZURES; SEQUENCE DELETION;

EID: 84859004217     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35235     Document Type: Article

References (14)

1. Cheng S, Maeda T, Yamagata Z, Tomiwa K, Yamakawa N. 2010. Comparison of factors contributing to developmental attainment of children between 9 and 18 months. J Epidemiol 20: S452-S458.
2. Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G. 2011. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features. Am J Med Genet Part A 155A: 424-429.
3. De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previdere C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. 2007. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: A study of 59 patients. J Med Genet 44: 750-762.
4. 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. 2005. Diagnostic genome profiling in mental retardation. Am J Hum Genet 77: 606-616.
5. Gu W, Zhang F, Lupski JR. 2008. Mechanisms for human genomic rearrangements. Pathogenetics 1: 4.
6. Jaillard S, Dubourg C, Gerard-Blanluet M, Delahaye A, Pasquier L, Dupont C, Henry C, Tabet AC, Lucas J, Aboura A, David V, Benzacken B, Odent S, Pipiras E. 2009. 2q23.1 microdeletion identified by array comparative genomic hybridisation: An emerging phenotype with Angelman-like features? J Med Genet 46: 847-855.
7. Koolen DA, Vissers LE, Nillesen W, Smeets D, van Ravenswaaij CM, Sistermans EA, Veltman JA, de Vries BB. 2004. A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization. Clin Genet 65: 429-432.
8. Lee JA, Carvalho CMB, Lupski JR. 2007. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131: 1235-1247.
9. van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Ades LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. 2010. The 2q23.1 microdeletion syndrome: Clinical and behavioural phenotype. Eur J Hum Genet 18: 163-170.
10. Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. 2003. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 73: 1261-1270.
11. Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P. 2009. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet 18: 3579-3593.
12. Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T, Strom TM. 2007. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet 81: 768-779.
13. Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH. 2010. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Eur J Hum Genet 18: 436-441.
14. Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR. 2009. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 41: 849-853.