De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

BMC Medical Genomics

Volumn 6, Issue 1, 2013, Pages

  Dinwiddie, Darrell L ^a,b,c,d   Soden, Sarah E ^a,b   Saunders, Carol J ^a,b   Miller, Neil A ^a   Farrow, Emily G ^a,b   Smith, Laurie D ^a,b   Kingsmore, Stephen F ^a,b  

^a CHILDREN S MERCY HOSPITAL   (United States)

^b UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF NEW MEXICO HEALTH SCIENCES CENTER   (United States)

^d UNIVERSITY OF NEW MEXICO   (United States)

Author keywords

ASXL3; Bohring Opitz syndrome; Craniofacial anomalies; de novo frameshift; Exome sequencing; Global developmental delay; Microcephaly

Indexed keywords

AFRICAN AMERICAN; ARTICLE; ASXL3 GENE; AUTISM; CASE REPORT; CHILD; CLINICAL FEATURE; CODON; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; MICROCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; CHILD; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; FRAMESHIFT MUTATION; HUMANS; MICROCEPHALY; PHENOTYPE; PREGNANCY; TRANSCRIPTION FACTORS;

EID: 84883897762     PISSN: None     EISSN: 17558794     Source Type: Journal    
DOI: 10.1186/1755-8794-6-32     Document Type: Article

References (25)

1. The national institutes of health undiagnosed diseases program: insights into rare diseases. Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, et al. Genet Med 2012 14 1 51 59 10.1038/gim.0b013e318232a005 22237431
2. Phenocopy versus genocopy. Zori RT, Williams CA, Am J Med Genet 1991 40 2 248 249 10.1002/ajmg.1320400224 1897581
3. Exe N, Heather-Ferguson MS, Alyson Krokosky CGC, Sawyer S, Sharon Terry MA, Genetic Testing Stories Washington (DC): Genetic Alliance Monograph Series 2006 " http://www.geneticalliance.org/ " Genetic Alliance
4. The NIH undiagnosed diseases program: lessons learned. Gahl WA, Tifft CJ, JAMA 2011 305 18 1904 1905 10.1001/jama.2011.613 21558523
5. Charting a course for genomic medicine from base pairs to bedside. Green ED, Guyer MS, National Human Genome Research I, Nature 2011 470 7333 204 213 10.1038/nature09764 21307933
6. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, et al. Nat Genet 2012 44 8 934 940 10.1038/ng.2331 22729224
7. De novo mutations in the actin genes ACTB and ACTG1 cause baraitser-winter syndrome. Riviere JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, et al. Nat Genet 2012 44 4 440 444 S441-442 10.1038/ng.1091 22366783
8. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, Jian M, Liu G, Greer D, Bhandari A, et al. Cell 2012 151 7 1431 1442 10.1016/j.cell.2012.11.019 23260136
9. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, et al. Nature 2012 485 7397 242 245 10.1038/nature11011 22495311
10. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, et al. Nature 2012 485 7397 246 250 10.1038/nature10989 22495309
11. De novo mutation in schizophrenia. Rees E, Kirov G, O'Donovan MC, Owen MJ, Schizophr Bull 2012 38 3 377 381 10.1093/schbul/sbs047 22451492
12. De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Xu B, Ionita-Laza I, Roos JL, Boone B, Woodrick S, Sun Y, Levy S, Gogos JA, Karayiorgou M, Nat Genet 2012 44 12 1365 1369 10.1038/ng.2446 23042115
13. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Hoischen A, van Bon BW, Rodriguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, et al. Nat Genet 2011 43 8 729 731 10.1038/ng.868 21706002
14. Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. Magini P, Della Monica M, Uzielli ML, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M, Am J Med Genet A 2012 158A 4 917 921 10.1002/ajmg.a.35265 22419483
15. Bohring-Opitz (oberklaid-danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. Hastings R, Cobben JM, Gillessen-Kaesbach G, Goodship J, Hove H, Kjaergaard S, Kemp H, Kingston H, Lunt P, Mansour S, et al. Eur J Hum Genet 2011 19 5 513 519 10.1038/ejhg.2010.234 21368916
16. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P, N Engl J Med 2006 355 5 456 466 10.1056/NEJMoa055068 16885549 (Pubitemid 44162273)
17. Ugrasbul F, Jacobson J, Dominantly inherited mutation in SUR1 (ABCC8 gene) associated with congenital hyperinsulinism and diabetes later in life Toronto, Canada: Poster session presented at: Lawson Wilkins Pediatric Endocrine Society Annual Meeting 2007 4 7
18. Concurrent and predictive validity of the cognitive adaptive test/clinical linguistic and auditory milestone scale (CAT/CLAMS) and the mental developmental index of the bayley scales of infant development. Voigt RG, Brown FR 3rd, Fraley JK, Llorente AM, Rozelle J, Turcich M, Jensen CL, Heird WC, Clin Pediatr (Phila) 2003 42 5 427 432 10.1177/000992280304200507 (Pubitemid 36712731)
19. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, Strenk ME, Soden SE, Saunders CJ, Kingsmore SF, Genomics 2013 102 3 148 156 10.1016/j.ygeno.2013.04.013 23631824
20. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, et al. Sci Transl Med 2012 4 154 154ra135 10.1126/scitranslmed.3004041 23035047
21. dbSNP: the NCBI database of genetic variation. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K, Nucleic Acids Res 2001 29 1 308 311 10.1093/nar/29.1.308 11125122 (Pubitemid 32054478)
22. An integrated map of genetic variation from 1,092 human genomes. Genomes Project C, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA, Nature 2012 491 7422 56 65 10.1038/nature11632 23128226
23. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, et al. Genome Med 2013 5 2 11 10.1186/gm415 23383720
24. SIFT: predicting amino acid changes that affect protein function. Ng PC, Henikoff S, Nucleic Acids Res 2003 31 13 3812 3814 10.1093/nar/gkg509 12824425 (Pubitemid 37442253)
25. A method and server for predicting damaging missense mutations. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR, Nat Methods 2010 7 4 248 249 10.1038/nmeth0410-248 20354512