Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nature Genetics

Volumn 40, Issue 12, 2008, Pages 1466-1471

  Brunetti Pierri, Nicola ^a   Berg, Jonathan S ^a   Scaglia, Fernando ^a,b   Belmont, John ^a   Bacino, Carlos A ^a,b   Sahoo, Trilochan ^a   Lalani, Seema R ^a   Graham, Brett ^a   Lee, Brendan ^a   Shinawi, Marwan ^a   Shen, Joseph ^a   Kang, Sung Hae L ^a   Pursley, Amber ^a   Lotze, Timothy ^b   Kennedy, Gail ^c,d   Lansky Shafer, Susan ^c,d   Weaver, Christine ^c,d   Roeder, Elizabeth R ^e   Grebe, Theresa A ^f   Arnold, Georgianne L ^g   Hutchison, Terry ^h   Reimschisel, Tyler ⁱ   Amato, Stephen ^j   Geragthy, Michael T ^k   Innis, Jeffrey W ^l   Obersztyn, Ewa ^m   Nowakowska, Beata ^m   Rosengren, Sally S ⁿ   Bader, Patricia I ^o   Grange, Dorothy K ⁱ   Naqvi, Sayed ^p   Garnica, Adolfo D ^q   Bernes, Saunder M ^r   Fong, Chin To ^g   Summers, Anne ^s   Walters, W David ^t   Lupski, James R ^a,b   Stankiewicz, Pawel ^a   Cheung, Sau Wai ^a   Patel, Ankita ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c Carle Clinic   (United States)

^d UNIVERSITY OF ILLINOIS   (United States)

^e UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^f ST JOSEPH'S HOSPITAL AND MEDICAL CENTER   (United States)

^g UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j EASTERN MAINE MEDICAL CENTER   (United States)

^k CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^l UNIVERSITY OF MICHIGAN   (United States)

^m INSTITUTE OF MOTHER AND CHILD   (Poland)

ⁿ UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

^o Parkview Hospital   (United States)

^p MIAMI CHILDREN'S HOSPITAL   (United States)

^q OKLAHOMA STATE UNIVERSITY   (United States)

^r PHOENIX CHILDREN'S HOSPITAL   (United States)

^s NORTH YORK GENERAL HOSPITAL   (Canada)

^t ARKANSAS CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BEHAVIOR DISORDER; CHROMOSOME 1Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HUMAN; MACROCEPHALY; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; CRANIOFACIAL ABNORMALITIES; FEMALE; GENE DELETION; GENE DUPLICATION; HUMANS; MALE; MENTAL DISORDERS; MICROCEPHALY; SCHIZOPHRENIA; YOUNG ADULT;

HOMO SAPIENS;

EID: 56749154242     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.279     Document Type: Article

References (25)

1. Christiansen, J. et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ. Res. 94, 1429-1435 (2004).
2. Sharp, A.J. et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat. Genet. 38, 1038-1042 (2006).
3. Shaffer, L.G. et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J. Pediatr. 149, 98-102 (2006).
4. Stefansson, H. et al. Large recurrent microdeletions associated with schizophrenia. Nature 455, 232-236 (2008).
5. Stone, J.L. et al. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455, 237-241 (2008).
6. Davy, B.E. & Robinson, M.L. Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. Hum. Mol. Genet. 12, 1163-1170 (2003).
7. Doggett, N.A. et al. A 360-kb interchromosomal duplication of the human HYDIN locus. Genomics 88, 762-771 (2006).
8. Klopocki, E. et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am. J. Hum. Genet. 80, 232-240 (2007).
9. Lechtreck, K.F., Delmotte, P., Robinson, M.L., Sanderson, M.J. & Witman, G.B. Mutations in Hydin impair ciliary motility in mice. J. Cell Biol. 180, 633-643 (2008).
10. Bond, J. et al. Protein-truncating mutations in ASPM cause variable reduction in brain size. Am. J. Hum. Genet. 73, 1170-1177 (2003).
11. Ponting, C.P. A novel domain suggests a ciliary function for ASPM, a brain size determining gene. Bioinformatics 22, 1031-1035 (2006).
12. Bond, J. et al. ASPM is a major determinant of cerebral cortical size. Nat. Genet. 32, 316-320 (2002).
13. Callen, D.F. et al. High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. J. Med. Genet. 30, 828-832 (1993).
14. Fujiwara, M., Yoshimoto, T., Morita, Y. & Kamada, M. Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome. Am. J. Med. Genet. 43, 561-564 (1992).
15. Natt, E., Magenis, R.E., Zimmer, J., Mansouri, A. & Scherer, G. Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16. Cytogenet. Cell Genet. 50, 145-148 (1989).
16. McNeil, T.F., Cantor-Graae, E., Nordstrom, L.G. & Rosenlund, T. Head circumference in 'preschizophrenic' and control neonates. Br. J. Psychiatry 162, 517-523 (1993).
17. Ward, K.E., Friedman, L., Wise, A. & Schulz, S.C. Meta-analysis of brain and cranial size in schizophrenia. Schizophr. Res. 22, 197-213 (1996).
18. Kelly, B.D., Lane, A., Agartz, I., Henriksson, K.M. & McNeil, T.F. Craniofacial dysmorphology in Swedish schizophrenia patients. Acta Psychiatr. Scand. 111, 202-207 (2005).
19. Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 444-454 (2006).
20. Mefford, H.C. et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N. Engl. J. Med. 359, 1685-1699 (2008).
21. Wilson, D.I., Goodship, J.A., Burn, J., Cross, I.E. & Scambler, P.J. Deletions within chromosome 22q11 in familial congenital heart disease. Lancet 340, 573-575 (1992).
22. Hannes, F.D. et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J. Med. Genet. advance online publication, doi:10.1136/jmg.2007.055202 (11 June 2008).
23. Sharp, A.J. et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat. Genet. 40, 322-328 (2008).
24. Cheung, S.W. et al. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet. Med. 7, 422-432 (2005).
25. Zankl, A. & Molinari, L. ABase - a tool for the rapid assessment of anthropometric measurements on handheld computers. Am. J. Med. Genet. A. 121A, 146-150 (2003).