Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1192-1195

  de Smith, Adam J ^a   van Haelst, Mieke M ^b   Ellis, Richard J ^c   Holder, Susan E ^c   Payne, Stewart J ^c   Hashim, Sugera K ^c   Froguel, Philippe ^a,d   Blakemore, Alexandra I F ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c EALING HOSPITAL NHS TRUST   (United Kingdom)

^d UNIV LILLE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ALU SEQUENCE; BEHAVIOR DISORDER; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 19P13.3; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; EAR DYSPLASIA; FEMALE; FINGER MALFORMATION; GENETIC SCREENING; HUMAN; LETTER; MACROCEPHALY; MENTAL DEFICIENCY; MOUTH MALFORMATION; NOSE MALFORMATION; OBESITY; PALPEBRAL FISSURE ANOMALY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE HOMOLOGY; SPEECH DISORDER; TOE MALFORMATION; WEIGHT GAIN;

ADOLESCENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 19; COMPARATIVE GENOMIC HYBRIDIZATION; EXONS; FEMALE; GENE DOSAGE; HUMANS; MACROCEPHALY; MENTAL DISORDERS; MENTAL RETARDATION; OBESITY;

EID: 79954997830     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33986     Document Type: Letter

References (15)

1. Artavanis-Tsakonas S, Matsuno K, Fortini ME. 1995. Notch signaling. Science 268:225-232.
2. Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG. 2007. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39:1071-1073.
3. Bomar JM, Benke PJ, Slattery EL, Puttagunta R, Taylor LP, Seong E, Nystuen A, Chen W, Albin RL, Patel PD, Kittles RA, Sheffield VC, Burmeister M. 2003. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nat Genet 35:264-269.
4. de Smith AJ, Tsalenko A, Sampas N, Scheffer A, Yamada NA, Tsang P, Ben-Dor A, Yakhini Z, Ellis RJ, Bruhn L, Laderman S, Froguel P, Blakemore AI. 2007. Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases. Hum Mol Genet 16:2783-2794.
5. Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP. 2009. DECIPHER: Database of chromosomal imbalance and phenotype in humans using Ensembl resources. Am J Hum Genet 84:524-533.
6. Froguel P, Blakemore AI. 2008. The power of the extreme in elucidating obesity. N Engl J Med 359:891-893.
7. Gasteiger E, Gattiker A, Hoogland C, Ivanyi I, Appel RD, Bairoch A. 2003. ExPASy: The proteomics server for in-depth protein knowledge and analysis. Nucleic Acids Res 31:3784-3788.
8. Hayakawa Y, Itoh M, Yamada A, Mitsuda T, Nakagawa T. 2007. Expression and localization of Cayman ataxia-related protein, Caytaxin, is regulated in a developmental- and spatial-dependent manner. Brain Res 1129:100-109.
9. Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. 2006. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38:999-1001.
10. Laudes M, Christodoulides C, Sewter C, Rochford JJ, Considine RV, Sethi JK, Vidal-Puig A, O'Rahilly S. 2004. Role of the POZ zinc finger transcription factor FBI-1 in human and murine adipogenesis. J Biol Chem 279:11711-11718.
11. Maeda T, Merghoub T, Hobbs RM, Dong L, Maeda M, Zakrzewski J, van den Brink MR, Zelent A, Shigematsu H, Akashi K, Teruya-Feldstein J, Cattoretti G, Pandolfi PP. 2007. Regulation of B versus T lymphoid lineage fate decision by the proto-oncogene LRF. Science 316:860-866.
12. Reynolds JF, Neri G, Herrmann JP, Blumberg B, Coldwell JG, Miles PV, Opitz JM. 1986. New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement-The CFC syndrome. Am J Med Genet 25:413-427.
13. Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA. 2006. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311:1287-1290.
14. Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hubner CA, Korenke GC, Konig R, Kress W, Kruger G, Meinecke P, Mucke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M. 2008. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet 73:62-70.
15. Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. 2006. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 38:1032-1037.