Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1

European Journal of Medical Genetics

Volumn 55, Issue 12, 2012, Pages 732-736

  Weisfeld Adams, James D ^a   Edelmann, Lisa ^a   Gadi, Inder K ^b   Mehta, Lakshmi ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b LABORATORY CORPORATION OF AMERICA   (United States)

Author keywords

22q11.2 duplication; Clinical heterogeneity; Copy number variation; SNP microarray analysis; TBX1

Indexed keywords

ANTERIOR FONTANEL; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CESAREAN SECTION; CHROMOSOME 22Q; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; COPY NUMBER VARIATION; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DOSAGE; GENETIC HETEROGENEITY; HEAD CIRCUMFERENCE; HIP DYSPLASIA; HUMAN; HUMAN TISSUE; HYPERTELORISM; INFANT; INTERPHASE; MALE; MICROCEPHALY; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; ORCHIDOPEXY; PALPEBRAL FISSURE; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PREGNANCY; SITTING; TBX1 GENE; TESTIS DESCENT; TRAFFIC ACCIDENT; UPPER LIP;

CHROMOSOMES, HUMAN, PAIR 22; FAMILY; GENOME-WIDE ASSOCIATION STUDY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; T-BOX DOMAIN PROTEINS; TRISOMY;

EID: 84869879845     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.08.011     Document Type: Article

References (25)

1. Edelmann L., Pandita R.K., Morrow B.E. Low-copy repeats mediate the common 3-Mb deletion in patients with velocardiofacial syndrome. Am. J. Hum. Genet. 1999, 64:1076-1086.
2. Shaikh T.H., Kurahashi H., Emanuel B.S. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations and genomic instability: an update and literature review. Genet. Med. 2001, 3(1):6-13.
3. Lindsay E.A., Vitelli F., Su H., Morishima M., Huynh T., Pramparo T., Jurecic V., Ogunrinu G., Sutherland H.F., Scambler P.J., Bradley A., Baldini A. TBX1 haploinsufficiency in the DiGeorge syndrome causes aortic arch defects in mice. Nature 2001, 410(6824):97-101.
4. Yobb T.M., Somerville M.J., Willatt L., Firth H.V., Harrison K., MacKenzie J., Gallo N., Morrow B.E., Shaffer L.G., Babcock M., Chernos J., Bernier F., et al. Microduplication and triplication of 22q11.2: a highly variable syndrome. Am. J. Hum. Genet. 2005, 76:865-876.
5. Stankiewicz P., Pursley A.N., Cheung S.W. Challenges in clinical interpretation of microduplications detected by array CGH analysis. Am. J. Med. Genet. Part A 2010, 152A:1089-1100.
6. Ensenauer R.E., Adeyinka A., Flynn H.C., Michels V.V., Lindor N.M., Dawson D.B., Thorland E.C., Lorentz C.P., Goldstein J.L., McDonald M.T., Smith W.E., Simon-Fayard E., et al. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic and molecular analysis of thirteen patients. Am. J. Hum. Genet. 2003, 73(5):1027-1040.
7. Ou Z., Berg J.S., Yonath H., Enciso V.B., Miller D.T., Picker J., Lenzi T., Keegan C.E., Sutton V.R., Belmont J., Chinault A.C., Lupski J.R., et al. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet. Med. 2008, 10(4):267-277.
8. Cooper G.M., Coe B.P., Girirajan S., Rosenfeld J.A., Vu T.H., Baker C., Williams C., Stalker H., Hamid R., Hannig V., Abdel-Hamid H., Bader P., et al. A copy number variation morbidity map of developmental delay. Nat. Genet. 2011, 43(9):838-846.
9. Lundin J., Söderhall C., Lunden L., Hammarsjö A., White I., Schoumans J., Läckgren G., Kockum C.C., Nordenskjöld A., et al. 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. Eur. J. Med. Genet. 2010, 53:61-65.
10. Alberti A., Romano C., Falco M., Calì F., Schinocca P., Galesi O., Spalletta A., Di Benedetto D., Fichera M. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Clin. Genet. 2007, 71(2):177-182.
11. Descartes M., Franklin J., Diaz de Ståhl T., Piotrowski A., Bruder C.E., Dumanski J.P., Carroll A.J., Mikhail F.M., et al. Distal 22q11.2 microduplication encompassing the BCR gene. Am. J. Med. Genet. Part A 2008, 146A(23):3075-3081.
12. Courtens W., Schramme I., Laridon A. Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? Report of two families. Am. J. Med. Genet. Part A 2008, 146A(6):758-763.
13. Coppinger J., McDonald-McGinn D., Zackai E., Shane K., Atkin J.F., Asamoah A., Leland R., Weaver D.D., Lansky-Shafer S., Schmidt K., Feldman H., Cohen W., et al. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum. Mol. Genet. 2009, 18(8):1377-1383.
14. Hu P., Ji X., Yang C., Zhang J., Lin Y., Cheng J., Ma D., Cao L., Yi L., Xu Z. 22q11.2 microduplication in a family with recurrent fetal congenital heart disease. Eur. J. Med. Genet. 2011, 54(4):e433-e436.
15. Liewluck T., Sacharow S.J., Fan Y., Lopez-Alberola R. A novel sporadic 614-kb duplication of the 22q11.2 chromosome in a child with amyoplasia. J. Child Neurol. 2011, 26(8):1005-1008.
16. Yu S., Cox K., Friend K., Smith S., Buchheim R., Bain S., Liebelt J., Thompson E., Bratkovic D. Familial 22q11.2 duplication: a three generation family with a 3 Mb duplication and a familial 1.5 Mb duplication. Clin. Genet. 2008, 73:160-164.
17. Jerome L.A., Papaioannou V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene. Nat. Genet. 2001, 27:286-291.
18. Zhang Z., Baldini A. In vivo response to high-resolution variation of TBX1 mRNA dosage. Hum. Mol. Genet. 2007, 17(1):150-157.
19. Yagi H., Furutani Y., Hamada H., Sasaki T., Asakawa S., Minoshima S., Ichida F., Joo K., Kimura M., Imamura S., Kamatani N., Momma K., et al. Role of TBX1 in human del22q11.2 syndrome. Lancet 2003, 362:1366-1373.
20. Zweier C., Sticht H., Aydin-Yaylagül I., Campbell C.E., Rauch A. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am. J. Hum. Genet. 2007, 80(3):510-517.
21. Vitelli F., Huynh T., Baldini A. Gain of function of TBX1 affects pharyngeal and heart development in the mouse. Genesis 2009, 47(3):188-195.
22. Ben-Shachar S., Ou Z., Shaw C.A., Belmont J.W., Patel M.S., Hummel M., Amato S., Tartaglia N., Berg J., Sutton V.R., Lalani S.R., Chinault A.C., et al. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am. J. Hum. Genet. 2008, 82(1):214-221.
23. Park H., Kim J.I., Ju Y.S., Gokcumen O., Mills R.E., Kim S., Lee S., Suh D., Hong D., Kang H.P., Yoo Y.J., Shin J.Y., et al. Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat. Genet. 2010, 42(5):400-405.
24. Perry G.H., Ben-Dor A., Tsalenko A., Gokcumen O., Mills R.E., Kim S., Lee S., Suh D., Hong D., Kang H.P., Yoo Y.J., Shin J.Y., et al. The fine-scale and complex architecture of human copy-number variation. Am. J. Hum. Genet. 2008, 82(3):685-695.
25. Bassett A.S., Chow E.W. Schizophrenia and 22q11.2 deletion syndrome. Curr. Psychiatry Rep. 2008, 10(2):148-157.