Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance

American Journal of Medical Genetics, Part A

Volumn 167, Issue 9, 2015, Pages 2122-2131

  Russell, Bianca ^a   Johnston, Jennifer J ^b   Biesecker, Leslie G ^b   Kramer, Nancy ^c   Pickart, Angela ^d   Rhead, William ^d   Tan, Wen Hann ^e   Brownstein, Catherine A ^e   Kate Clarkson, L ^f   Dobson, Amy ^f   Rosenberg, Avi Z ^g   Vergano, Samantha A Schrier ^h   Helm, Benjamin M ^h   Harrison, Rachel E ⁱ   Graham, John M ^c  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Children's Hospital of Wisconsin ^*  (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f GREENWOOD GENETIC CENTER   (United States)

^g NATIONAL CANCER INSTITUTE   (United States)

^h CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

ⁱ NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

Author keywords

ASXL1; Bohring Opitz syndrome; Cyclic vomiting; Failure to thrive; Hypertrichosis; Intellectual disability; Myopia; Nevus flammeus; Wilms tumor

Indexed keywords

CORTICOSTEROID; CYPROHEPTADINE; DACTINOMYCIN; DOXORUBICIN; ETIRACETAM; LORAZEPAM; MELATONIN; ONDANSETRON; PARACETAMOL; SALBUTAMOL; VINCRISTINE; ASXL1 PROTEIN, HUMAN; REPRESSOR PROTEIN;

ABDOMINAL REFLEX; ABNORMAL POSTURE; ANTHROPOMETRIC PARAMETERS; ARACHNOID CYST; ARTICLE; ARTIFICIAL VENTILATION; ASXL1 GENE; BOHRING OPITZ SYNDROME; BONE DISEASE; CANCER COMBINATION CHEMOTHERAPY; CANCER SUSCEPTIBILITY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DEVELOPMENTAL STAGE; DIET SUPPLEMENTATION; DISEASE ASSOCIATION; DISEASE SURVEILLANCE; FACIES; FEEDING DIFFICULTY; FEMALE; GENE; GENE LOSS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; HAIR GROWTH; HAIR LOSS; HETEROTOPIA; HUMAN; HUMAN TISSUE; HYPERTRICHOSIS; INFANT; INSOMNIA; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MYOPIA; NEPHRECTOMY; NEPHROBLASTOMA; NEVUS FLAMMEUS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; RESPIRATORY TRACT INFECTION; SEIZURE; SLEEP DISORDER; SLEEP DISORDERED BREATHING; SOCIAL BEHAVIOR; TRACHEOSTOMY; UPPER RESPIRATORY TRACT INFECTION; VOMITING; BONE MARROW CANCER; CRANIOFACIAL SYNOSTOSIS; GENETIC PREDISPOSITION; GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; BONE MARROW NEOPLASMS; CHILD; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MUTATION; REPRESSOR PROTEINS; WILMS TUMOR;

EID: 84939467262     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37131     Document Type: Article

References (30)

1. Abdel-Wahab O, Adli M, LaFave LM, Gao J, Hricik T, Shih AH, Pandey S, Patel JP, Chung YR, Koche R, Perna F, Zhao X, Taylor JE, Park CY, Carroll M, Melnick A, Nimer SD, Jaffe JD, Aifantis I, Bernstein BE, Levine RL. 2012. ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression. Cancer Cell 22:180-193.
2. Addor MC, Stefanutti D, Farron F, Meinecke P, Lacombe D, Sarlangue J, Prescia G, Schorderet DF. 1995. C Trigonocephaly syndrome with diaphragmatic hernia. Genet Counsel 6:113-120.
3. Antley RM, Hwang DS, Theopold W, Gorlin RJ, Steeper T, Pitt D, Danks DM, McPherson E, Bartels H, Wiedemann HR, Opitz JM. 1981. Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet 9:147-163.
4. Aravind L, Iyer LM. 2012. The HARE-HTH and associated domains: Novel modules in the coordination of epigenetic DNA and protein modifications. Cell Cycle 11:119-131.
5. Bainbridge MN, Hao H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH. 2013. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med 5:11.
6. Bisgaard AM, Kirchhoff M, Nielsen JE, Brandt C, Hove H, Jepsen B, Jensen T, Ullmann R, Skovby F. 2007. Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants? Eur J Med Genet 50:243-255.
7. Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A, Opitz JM. 1999. Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet 85:438-446.
8. Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P. 2006. New cases of Bohring-Opitz syndrome, update, and critical review of the literature. Am J Med Genet Part A 140A:1257-1263.
9. Brunner HG, Van Tintelen JP, De Boer RJ. 2000. Bohring syndrome. Am J Med Genet 92:366-368.
10. Fisher CL, Berger J, Randazzo F, Brock HW. 2003. A human homolog of additional sex combs, additional sex combs-like 1, maps to chromosome 20q11. Gene 306:115-126.
11. Fisher CL, Lee1 I, Bloyer S, Bozza S, Chevalier J, Dahl A, Bodner C, Helgason CD, Hess JL, Humphries RK, Brock HW. 2010. Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice. Dev Biol 337:9-15.
12. Greenhalgh KL, Newbury-Ecob RA, Lunt PW, Dolling CL, Hargreaves H, Smithson SF. 2003. Siblings with Bohring-Opitz syndrome. Clin Dysmorphol 12:15-19.
13. Hastings RW, Newbury-Ecob R, Lunt PW. 2010. A case of probable Bohring-Opitz syndrome with medulloblastoma. Clin Dysmorphol 19:202-205.
14. Hastings R, Cobben JM, Gillessen-Kaesbach G, Goodship J, Hove H, Kjaergaard S, Kemp H, Kingston H, Lunt P, Mansour S, McGowan R, Metcalfe K, Murdoch-Davis C, Ray M, Rio M, Smithson S, Tolmie J, Turnpenny P, van Bon B, Wieczorek D, Newbury-Ecob R. 2011. Bohring-Opitz (Oberklaid-Danks) syndrome: Clinical study, review of the literature, and discussion of possible pathogenesis. Eur J Hum Genet 19:513-519.
15. Hoischen A, van Bon BW, Rodriguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BBBA. 2011. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet 43:729-731.
16. Huisman SA, Redeker EJW, Maas SM, Mannens MM, Hennekam RCM. 2013. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet 50:339-344.
17. Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, Lindsley RC, Mermel CH, Burtt N, Chavez A, Higgins JM, Moltchanov V, Kuo FC, Kluk MJ, Henderson B, Kinnunen L, Koistinen HA, Ladenvall C, Getz G, Correa A, Banahan BF, Gabriel S, Kathiresan S, Stringham HM, McCarthy MI, Boehnke M, Tuomilehto J, Haiman C, Groop L, Atzmon G, Wilson JG, Neuberg D, Altshuler D, Ebert BL. 2014. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med 371:2488-2498.
18. Johnston JJ, Wen KK, Keppler-Noreuil K, McKane M, Maiers JL, Greiner A, Sapp JC, Demali KA, Rubenstein PA, Biesecker LG. 2013. Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. Hum Mutat 34:1242-1249.
19. Lindor NM 2000. Severe end of Opitz Trigonocephaly C syndrome. Am J Med Genet 92:363-365.
20. Magini P, Della Monica M, Uzielli ML, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M. 2012. Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. Am J Med Genet Part A 158A:917-921.
21. McGaughran J, Aftimos S, Oei P. 2000. Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome. Am J Med Genet 94:311-315.
22. Nakane T, Kubota T, Fukushima Y, Hata Y, Ishii J, Komiyama A. 2000. Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: Another example. Am J Med Genet 92:361-362.
23. Oberklaid F, Danks D. 1975. The Opitz trigonocephaly syndrome. Am J Dis Child 129:1348-1349.
24. Osaki M, Makita Y, Miura J, Abe N, Noguchi S, Miyamoto A. 2006. A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome. Am J Med Genet Part A 140A:897-899.
25. Pierron S, Richelme C, Triolo V, Mas JC, Griffet J, Karmous-Benailly H, Quere M, Kaname T, Lambert JC, Giuliano F. 2009. Evolution of a patient with Bohring-Opitz syndrome. Am J Med Genet Part A 149A:1754-1757.
26. Russell B, Graham JM. 2013. Expanding our knowledge of conditions associated with the ASXL gene family. Genome Med 5:16.
27. Simpson AR, Gibbon CE, Quinn AG, Turnpenny PD. 2007. Infantile high myopia in Bohring-Opitz syndrome. J AAPOS 11:524-525.
28. Sinclair DA, Milne TA, Hodgson JW, Shellard J, Salinas CA, Kyba M, Randazzo F, Brock HW. 1998. The additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes. Development (Cambridge, England) 125:1207-1216.
29. Tan TY, Amor DJ. 2006. Tumor surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: A critical review of the evidence and suggested guidelines for local practice. J Paediatr Child Health 42:486-490.
30. Wang J, Li Z, He Y, Pan F, Chen S, Rhodes S, Nguyen L, Yuan J, Jiang L, Yang X, Weeks O, Liu Z, Zhou J, Ni H, Cai CL, Xu M, Yang FC. 2014. Loss of Asxl1 leads to myelodysplastic syndrome-like disease in mice. Blood 123:541-553.