1.9Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: Dissecting the phenotype

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1535-1541

  Izumi, Kosuke ^a   Brooks, Susan S ^b   Feret, Holly A ^a   Zackai, Elaine H ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

Agenesis of the corpus callosum; Cleft palate; Micrognathia; Pierre Robin sequence; Pulmonary hypertension

Indexed keywords

ARTICLE; BIRTH WEIGHT; BODY HEIGHT; BRADDOCK CAREY SYDROME; BREECH PRESENTATION; CASE REPORT; CESAREAN SECTION; CHROMOSOME 21Q; CHROMOSOME DELETION; CHROMOSOME MICRODELETION; CHRONIC KIDNEY FAILURE; CHRONIC LUNG DISEASE; CLEFT PALATE; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; DIABETES MELLITUS; DYSTONIC DISORDER; ELECTROCARDIOGRAM; ENDOTRACHEAL INTUBATION; FACE MALFORMATION; FEMALE; GENE; GENE DELETION; GENE FUNCTION; GENE LOCATION; GENETIC DISORDER; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HEART ATRIUM SEPTUM DEFECT; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; MATERNAL HYPERTENSION; MEDICAL HISTORY; MICROGNATHIA; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NEWBORN; PHENOTYPE; PHYSICAL EXAMINATION; PIERRE ROBIN SYNDROME; PREGNANCY COMPLICATION; PRIORITY JOURNAL; PULMONARY ARTERY MALFORMATION; RESPIRATORY DISTRESS; RUNX1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; THORAX RADIOGRAPHY; THROMBOCYTOPENIA; CHROMOSOME 21; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM AGENESIS; FACIES; GENETICS; GROWTH DISORDER; KARYOTYPING; MULTIPLE MALFORMATION SYNDROME;

ABNORMALITIES, MULTIPLE; AGENESIS OF CORPUS CALLOSUM; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 21; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; GROWTH DISORDERS; HUMANS; INFANT; KARYOTYPING; PHENOTYPE; PIERRE ROBIN SYNDROME; THROMBOCYTOPENIA;

EID: 84862688381     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35368     Document Type: Article

References (40)

1. Abadie V, Morisseau-Durand MP, Beyler C, Manach Y, Couly G. 2002. Brainstem dysfunction: A possible neuroembryological pathogenesis of isolated Pierre Robin sequence. Eur J Pediatr 161: 275- 280.
2. Ahn EY, DeKelver RC, Lo MC, Nguyen TA, Matsuura S, Boyapati A, Pandit S, Fu XD, Zhang DE. 2011. SON controls cell-cycle progression by coordinated regulation of RNA splicing. Mol Cell 42: 185- 198.
3. Béri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, Grégoire MJ, Bordigoni P, Lecompte T, Leheup B, Jonveaux P. 2008. Clinical phenotype of germline RUNX1 haploinsufficiency: From point mutations to large genomic deletions. Eur J Hum Genet 16: 1014- 1018.
4. Braddock SR, Carey JC. 1994. A new syndrome: Congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. Clin Dysmorphol 3: 75- 81.
5. Braddock SR, Schiffman JD, Sarah T, South ST, Carey JC. 2011. Braddock-Carey syndrome: A twenty year journey ends with a new microdeletion syndrome. 32nd annual David W. Smith Workshop on Malformations and Morphogenesis, Lake Arrowhead, CA, USA.
6. Brodsky G, Barnes T, Bleskan J, Becker L, Cox M, Patterson D. 1997. The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome. Hum Mol Genet 6: 2043- 2050.
7. Byrd RS, Zwerdling T, Moghaddam B, Pinter JD, Steinfeld MB. 2011. Monosomy 21q22.11-q22.13 presenting as a Fanconi anemia phenotype. Am J Med Genet Part A 155A: 120- 125.
8. Carey JC, Fineman RM, Ziter FA. 1982. The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. J Pediatr 101: 858- 864.
9. Chettouh Z, Croquette MF, Delobel B, Gilgenkrants S, Leonard C, Maunoury C, Prieur M, Rethoré MO, Sinet PM, Chery M. 1995. Molecular mapping of 21 features associated with partial monosomy 21: Involvement of the APP-SOD1 region. Am J Hum Genet 57: 62- 71.
10. Click ES, Cox B, Olson SB, Grompe M, Akkari Y, Moreau LA, Shimamura A, Sternen DL, Liu YJ, Leppig KA, Matthews DC, Parisi MA. 2011. Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene. Am J Med Genet Part A 155A: 1673- 1679.
11. Daskalogiannakis J, Ross RB, Tompson BD. 2001. The mandibular catch-up growth controversy in Pierre Robin sequence. Am J Orthod Dentofacial Orthop 120: 280- 285.
12. Dykes EH, Raine PA, Arthur DS, Drainer IK, Young DG. 1985. Pierre Robin syndrome and pulmonary hypertension. J Pediatr Surg 20: 49- 52.
13. Figueroa AA, Glupker TJ, Fitz MG, BeGole EA. 1991. Mandible, tongue, and airway in Pierre Robin sequence: A longitudinal cephalometric study. Cleft Palate Craniofac J 28: 425- 434.
14. Hanson JW, Smith DW. 1975. U-shaped palatal defect in the Robin anomalad: Developmental and clinical relevance. J Pediatr 87: 30- 33.
15. Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RCM, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KOJ, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR. 2010. Stickler syndrome caused by COL2A1 mutations: Genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet 18: 872- 880.
16. Hoyer J, Dreweke A, Becker C, Göhring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Hüffmeier U, Kraus C, Ekici AB, Rüschendorf F, Nürnberg P, Reis A, Rauch A. 2007. Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet 44: 629- 636.
17. Huen MSY, Sy SMH, Leung KM, Ching YP, Tipoe GL, Man C, Dong S, Chen J. 2010. SON is a spliceosome-associated factor required for mitotic progression. Cell Cycle 9: 2679- 2685.
18. Hunter MP, Nelson M, Kurzer M, Wang X, Kryscio RJ, Head E, Pinna G, O'Bryan JP. 2011. Intersectin 1 contributes to phenotypes in vivo: Implications for Down's syndrome. Neuroreport 22: 767- 772.
19. Izumi K, Konczal LL, Mitchell AL, Jones MC. 2012. Underlying genetic diagnosis of Pierre Robin sequence: Retrospective chart review at two children's hospitals and a systematic literature review. J Pediatr 160: 645- 650.
20. Katzaki E, Morin G, Pollazzon M, Papa FT, Buoni S, Hayek J, Andrieux J, Lecerf L, Popovici C, Receveur A, Mathieu-Dramard M, Renieri A, Mari F, Philip N. 2010. Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients. Am J Med Genet Part A 152A: 1711- 1717.
21. Khabbaze Y, Karayalcin G, Paley C, Shende A, Valderrama E, Lipton JM. 2001. Thrombocytopenia absent corpus callosum syndrome: Third case of a distinct clinical entity. J Pediatr Hematol Oncol 23: 469- 471.
22. Ligon KL, Fancy SPJ, Franklin RJM, Rowitch DH. 2006. Olig gene function in CNS development and disease. Glia 54: 1- 10.
23. Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, Holm E, Anderlid BM, Blennow E. 2010. Detailed molecular and clinical characterization of three patients with 21q deletions. Clin Genet 77: 145- 154.
24. Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G. 2011. Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22. Am J Med Genet Part A 155A: 1697- 1705.
25. Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. 2009. Cleft lip and palate. Lancet 374: 1773- 1785.
26. Oegema R, de Klein A, Verkerk AJ, Schot R, Dumee B, Douben H, Eussen B, Dubbel L, Poddighe PJ, van der Laar I, Dobyns WB, van der Spek PJ, Lequin MH, de Coo IFM, de Wit MCY, Wessels MW, Mancini GMS. 2010. Distinctive phenotypic abnormalities associated with submicroscopic 21q22 deletion including DYRK1A. Mol Syndromol 1: 113- 120.
27. Poswillo D. 1967. The Pierre Robin syndrome: Etiology and early treatment. Trans Int Conf Oral Surg 425- 429.
28. Ricks JE, Ryder VM, Bridgewater LC, Schaalje B, Seegmiller RE. 2002. Altered mandibular development precedes the time of palate closure in mice homozygous for disproportionate micromelia: An oral clefting model supporting the Pierre-Robin sequence. Teratology 65: 116- 120.
29. Robin P. 1923. La chute delabase de la langue considerée comme une nouvelle cause de gêne dans la respiration naso-pharyngienne. Bull Acad Natl Med (Paris) 89: 37- 41.
30. Sharma A, Takata H, Shibahara K, Bubulya A, Bubulya PA. 2010. Son is essential for nuclear speckle organization and cell cycle progression. Mol Biol Cell 21: 650- 663.
31. Sherer DM, Metlay LA, Woods JR Jr. 1995. Lack of mandibular movement manifested by absent fetal swallowing: A possible factor in the pathogenesis of micrognathia. Am J Perinatol 12: 30- 33.
32. Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G, Chinault AC, Cheung SW, Plon SE. 2008. Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood 112: 1042- 1047.
33. Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG. 1999. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23: 166- 175.
34. Steinberg B, Nelson VS, Feinberg SE, Calhoun C. 1996. Incidence of maxillofacial involvement in arthrogryposis multiplex congenita. J Oral Maxillofac Surg 54: 956- 959.
35. Thevenon J, Callier P, Thauvin-Robinet C, Mejean N, Falcon-Eicher S, Maynadie M, de Maistre E, Bidot S, Huet F, Beri-Dexheimer M, Jonveaux P, Mugneret F, Faivre L. 2011. De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection. Am J Med Genet Part A 155A: 126- 129.
36. van der Crabben S, van Binsbergen E, Ausems M, Poot M, Bierings M, Buijs A. 2010. Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation. Leuk Res 34: e8- e12.
37. Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC, Marazita ML. 2008. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. Genet Med 10: 668- 674.
38. Voronov SV, Frere SG, Giovedi S, Pollina EA, Borel C, Zhang H, Schmidt C, Akeson EC, Wenk MR, Cimasoni L, Arancio O, Davisson MT, Antonarakis SE, Gardiner K, De Camilli P, Di Paolo G. 2008. Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. Proc Natl Acad Sci USA 105: 9415- 9420.
39. Yao G, Chen XN, Flores-Sarnat L, Barlow GM, Palka G, Moeschler JB, McGillivray B, Morse RP, Korenberg JR. 2006. Deletion of chromosome 21 disturbs human brain morphogenesis. Genet Med 8: 1- 7.
40. Yu Y, Chu PY, Bowser DN, Keating DJ, Dubach D, Harper I, Tkalcevic J, Finkelstein DI, Pritchard MA. 2008. Mice deficient for the chromosome 21 ortholog Itsn1 exhibit vesicle-trafficking abnormalities. Hum Mol Genet 17: 3281- 3290.