Clinical Comparison of Overlapping Deletions of 19p13.3

American Journal of Medical Genetics, Part A

Volumn 161, Issue 5, 2013, Pages 1110-1116

  Risheg, Hiba ^a   Pasion, Romela ^c   Sacharow, Stephanie ^b   Proud, Virginia ^d   Immken, Ladonna ^e   Schwartz, Stuart ^c   Tepperberg, Jim H ^c   Papenhausen, Peter ^c   Tan, Tiong Y ^f   Andrieux, Joris ^g   Plessis, Ghislaine ^h   Amor, David J ^f,i   Keitges, Elisabeth A ^a  

^a DYNACARE LABORATORIES   (Canada)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c LABORATORY CORPORATION OF AMERICA   (United States)

^d CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

^e Specially for Children   (United States)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h CAEN UNIVERSITY HOSPITAL   (France)

ⁱ UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

19p13.3 deletions; Copy number variants; SNP microarray

Indexed keywords

DEATH ASSOCIATED PROTEIN KINASE; ELONGATION FACTOR 2; MICRORNA; MICRORNA 637; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; NICOTINAMIDE RIBOSIDE; PROTEIN INHIBITOR OF ACTIVATED STAT; RNA SNORDU37; UNCLASSIFIED DRUG; UNTRANSLATED RNA; ZINC FINGER PROTEIN;

ADULT; ARTICLE; ATCAY GENE; CASE REPORT; CHILD; CHROMOSOME 19P; CLINICAL FEATURE; COMPARATIVE STUDY; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; DAPK3 GENE; DEVELOPMENTAL DISORDER; EEF2 GENE; FACE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCATION; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; MACROCEPHALY; MALE; MICROARRAY ANALYSIS; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2 GENE; NMRK2 GENE; PHENOTYPE; PIAS4 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; ZBTB7A GENE;

EID: 85027932632     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35923     Document Type: Article

References (12)

1. Al-Kateb H, Hahn A, Gastier-Foster JM, Jeng L, McCandless SE, Curtis CA. 2010. Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies. Am J Med Genet A 152A:3148-3153.
2. 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.
3. Chun TH, Itoh H, Subramanian L, Iñiguez-Lluhí JA, Nakao K. 2003. Modification of GATA-2 transcriptional activity in endothelial cells by the SUMO E3 ligase PIASy. Circ Res 92:1201-1208.
4. de Smith AJ, van Haelst MM, Ellis RJ, Holder SE, Payne SJ, Hashim SK, Froguel P, Blakemore AI. 2011. Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems. Am J Med Genet A 155A:1192-1195.
5. Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, Cordeddu V, Martinelli S, Briuglia S, Digilio MC, Zampino G, Tartaglia M, Dallapiccola B. 2009. Spectrum of MEK1and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. Eur J Hum Genet 17:733-740.
6. 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.
7. Li J, Rao H, Burkin D, Kaufman SJ, Wu C. 2003. The muscle integrin binding protein (MIBP) interacts with alpha7beta1 integrin and regulates cell adhesion and laminin matrix deposition. Dev Biol 261:209-219.
8. 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.
9. Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC. 1996. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 5:525-531.
10. Siggberg L, Olsén P, Näntö-Salonen K, Knuutila S. 2011. 19p13.3 aberrations are associated with dysmorphic features and deviant psychomotor development. Cytogenet Genome Res 132:8-15.
11. Togi S, Ikeda O, Kamitani S, Nakasuji M, Sekine Y, Muromoto R, Nanbo A, Oritani K, Kawai T, Akira S, Matsuda T. 2011. Zipper-interacting protein kinase (ZIPK) modulates canonical Wnt/beta-catenin signaling through interaction with Nemo-like kinase and T-cell factor 4 (NLK/TCF4). Biol Chem 286:19170-19177.
12. Verpelli C, Piccoli G, Zibetti C, Zanchi A, Gardoni F, Huang K, Brambilla D, Di Luca M, Battaglioli E, Sala C. 2010. Synaptic activity controls dendritic spine morphology by modulating eEF2-dependent BDNF synthesis. J Neurosci 30:5830-5842.