Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1463-1467

  Chiang, Pei Wen ^a   Lee, Ni Chung ^b   Chien, Nancy ^b   Hwu, Wuh Liang ^b   Spector, Elaine ^a   Tsai, Anne Chun Hui ^c  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^c CHILDREN S HOSPITAL COLORADO   (United States)

Author keywords

CREBBP; EP300; Mosaicism; RSTS; Rubinstein Taybi syndrome

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; DNA;

ARTICLE; BIRTH WEIGHT; BLOOD ANALYSIS; BODY HEIGHT; CASE REPORT; CHILD; CHRONIC LUNG DISEASE; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DIABETES INSIPIDUS; DOWNWARD PALPEBRAL SLANT; EPIDERMOID CYST; FAMILY STUDY; FATHER; FEMALE; GENE MUTATION; GERM LINE; HALLUX; HUMAN; HUMAN TISSUE; HYPERGLYCEMIA; INFANT; JOINT HYPERMOBILITY; KARYOTYPE 46,XX; LACRIMAL DUCT OCCLUSION; LARGE FOR GESTATIONAL AGE; LIP MALFORMATION; LOW SET EAR; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MOSAICISM; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NOSE MALFORMATION; NUCLEOTIDE SEQUENCE; PALATE MALFORMATION; PATENT DUCTUS ARTERIOSUS; PILOMATRIXOMA; PREMATURITY; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SALIVA ANALYSIS; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; SOMATIC MUTATION; SPEECH DISORDER; STOMACH FUNDOPLICATION; THUMB MALFORMATION; TISSUE; ZYGOTE;

CREB-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GERM CELLS; GERM-LINE MUTATION; HUMANS; HYBRID CELLS; INFANT, NEWBORN; MOSAICISM; PEDIGREE; RUBINSTEIN-TAYBI SYNDROME;

EID: 67649888520     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32948     Document Type: Article

References (18)

1. Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S. 2005. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet 117:485-493. (Pubitemid 41236370)
2. Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Giovannucci Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. 2006. Rubinstein-Taybi syndrome: Spectrum of CREBBP mutations in Italian patients. BMC Med Genet 7:77-89. (Pubitemid 44650578)
3. Blough RI, Petrij F, Dauwerse JG, Milatovich-Cherry A, Weiss L, Saal HM, Rubinstein JH. 2000. Variation in microdeletions of the cyclic AMPresponsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome. Am J Med Genet 90:29-34. (Pubitemid 30010826)
4. Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard M-J, dePater JM, Mariman ECM, Hamel BCJ, Himmelbauer H, Frischauf A-M, Stallings RL, Beverstock GC, van Ommen G-JB, Hennekam RCM. 1993. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet 52:249-254.
5. Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, Taine L, Cruaud C, Lacombe D, Arveiler B. 2002. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet 39:415-421. (Pubitemid 34664976)
6. Hennekam RCM. 2006. Rubinstein-Taybi syndrome. Eur J Hum Genet 14:981-985. (Pubitemid 44275830)
7. Hennekam RCM, Stevens CA, Van de Kamp JJP. 1990. Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Suppl 6:56-64. (Pubitemid 20285172)
8. Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, Breuning MH. 1995. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376:348-351.
9. Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen G-JB, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RCM, Peters DJM, Breuning MH. 2000. Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet 37:168-176. (Pubitemid 30245909)
10. Roelfsema JH, Peters DJ. 2007. Rubinstein-Taybi syndrome: Clinical and molecular overview. Expert Rev Mol Med 9:1-16. (Pubitemid 47616466)
11. Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. 2005. Genetic heterogeneity in Rubinstein-Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 76:572-580. (Pubitemid 40432165)
12. Rozman M, Camos M, Colomer D, Villamor N, Esteve J, Costa D, Carrio A, Aymerich M, Aguilar JL, Domingo A, Sole F, Gomis F, Florensa L, Montserrat E, Campo E. 2004. Type I MOZ/CBP (MYST3/CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation. Genes Chromosomes Cancer 40: 140-145. (Pubitemid 38579882)
13. Schmidt HH, Strehl S, Thaler D, Strunk D, Sill H, Linkesch W, Jager U, Sperr W, Greinix HT, Konig M, Emberger W, Haas OA. 2004. RT-PCR and FISH analysis of acute myeloid leukemia with t(8;16)(p11;p13) and chimeric MOZ and CBP transcripts: Breakpoint cluster region and clinical implications. Leukemia 18:1115-1121. (Pubitemid 38786970)
14. Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. 2008. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet Part A 146A: 2512-2519.
15. Stevens CA. 2007. Rubinstein-Taybi syndrome: In GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2007. Available at http://www.genetests.org.
16. Stevens CA, Carey JC, Blackburn BL. 1990. Rubinstein-Taybi syndrome: A natural history study. Am J Med Genet Suppl 6:30-37. Vizmanos JL, Larrayoz MJ, Lahortiga I, Floristan F, Alvarez C, Odero MD, (Pubitemid 20285167)
17. Novo FJ, Calasanz MJ. 2003. t(10;16)(q22;p13) and MORF-CREBBP fusion is a recurrent event in acute myeloid leukemia. Genes Chromosomes Cancer 36:402-405. (Pubitemid 36314523)
18. Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. 2003. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet Part A 119A:101-110. (Pubitemid 37063878)