Novel splicing mutation in the ASXL3 gene causing Bainbridge–Ropers syndrome

American Journal of Medical Genetics, Part A

Volumn 170, Issue 7, 2016, Pages 1863-1867

  Hori, Ikumi ^a   Miya, Fuyuki ^b,c   Ohashi, Kei ^a   Negishi, Yutaka ^a   Hattori, Ayako ^a   Ando, Naoki ^a   Okamoto, Nobuhiko ^d   Kato, Mitsuhiro ^e   Tsunoda, Tatsuhiko ^b,c   Yamasaki, Mami ^f   Kanemura, Yonehiro ^g   Kosaki, Kenjiro ^h   Saitoh, Shinji ^a  

^a NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c Institute of Physical and Chemical Research   (Japan)

^d RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^e SHOWA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f Takatsuki   (Japan)

^g NATIONAL HOSPITAL ORGANIZATION   (Japan)

^h KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

ASXL3; Bainbridge Ropers syndrome; whole exome sequencing

Indexed keywords

ASXL3 PROTEIN; RAMELTEON; REGULATOR PROTEIN; UNCLASSIFIED DRUG; ASXL3 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; ASXL3 GENE; AUTISM; BAINBRIDGE ROPERS SYNDROME; BOHRING OPITZ SYNDROME; CASE REPORT; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; GENE; GENE LOCATION; GENE MUTATION; GENETIC DISORDER; HUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; SHORT STATURE; SLEEP DISORDER; COMPLICATION; CRANIOFACIAL SYNOSTOSIS; EXOME; GENE EXPRESSION REGULATION; GENETICS; HETEROZYGOTE; INTELLECTUAL IMPAIRMENT; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; RNA SPLICING;

CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; GENE EXPRESSION REGULATION; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MUTATION; PHENOTYPE; RNA SPLICING; TRANSCRIPTION FACTORS;

EID: 84963826932     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37653     Document Type: Article

References (9)

1. Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, 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.
2. Berget SM. 1995. Exon recognition in vertebrate splicing. J Biol Chem 270:2411–2414.
3. Dinwiddie DL, Soden SE, Saunders CJ, Miller NA, Farrow EG, Smith LD, Kingsmore SF. 2013. De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. BMC Med Genomics 6:32.
4. 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.
5. 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 BB. 2011. De novo nonsense mutations in ASXL1 cause Bohring–Opitz syndrome. Nat Genet 43:729–731.
6. Katoh M. 2013. Functional and cancer genomics of ASXL family members. Br J Cancer 109:299–306.
7. 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.
8. Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan WH, Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Vergano SA, Helm BM, Harrison RE, Graham JM, Jr. 2015. Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet Part A 167:2122–2131.
9. Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS. 2015. Whole-exome sequencing in undiagnosed genetic diseases: Interpreting 119 trios. Genet Med 17:774–781.