17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 10, 2012, Pages 2564-2570

  Coutton, Charles ^a,b,c   Devillard, Francoise ^a   Vieville, Gaëlle ^a   Amblard, Florence ^a   Lopez, Gipsy ^a   Jouk, Pierre Simon ^a,c   Satre, Véronique ^a,b,c  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

^b Laboratoire AGIM CNRS FRE3405   (France)

^c UNIV GRENOBLE ALPES   (France)

Author keywords

17p13.1; Array CGH; Intellectual disability; Microduplication; Silver Russell syndrome

Indexed keywords

GROWTH HORMONE;

ADOLESCENT; ARTICLE; BRACHYCEPHALY; CASE REPORT; CHILD; CHROMOSOME 17P; CHROMOSOME 17P13.1; CHROMOSOME DUPLICATION; CLINODACTYLY; COLD SENSATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DULLARD XENOPUS HOMOLOG GENE; FACE DYSMORPHIA; FEEDING DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GROWTH RETARDATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTERTRIGO; KARYOTYPE 46,XY; KARYOTYPING; MACROCEPHALY; MALE; MICROGNATHIA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; PERIPHERAL LYMPHOCYTE; PHOSPHATIDYLINOSITOL TRANSFER PROTEIN MEMBRANE ASSOCIATED 3 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SILVER RUSSELL SYNDROME; SPEECH DISORDER;

ADOLESCENT; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE; SILVER-RUSSELL SYNDROME;

EID: 84866505401     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35553     Document Type: Article

References (18)

1. Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. 2008. The genetic aetiology of Silver-Russell syndrome. J Med Genet 45: 193-199.
2. Adam MP, Justice AN, Schelley S, Kwan A, Hudgins L, Martin CL. 2009. Clinical utility of array comparative genomic hybridization: Uncovering tumor susceptibility in individuals with developmental delay. J Pediatr 154: 143-146.
3. Bi W, Sapir T, Schelochkov O, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotss VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore D-L, Horner M, Lu X-Y, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O. 2009. Increased LIS1 expression affects human and mouse brain development. Nat Genet 41: 168-177.
4. Coutton C, Monnier N, Rendu J, Lunardi J. 2010. Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene. Clin Biochem 43: 609-614.
5. Eggermann T, Begemann M, Binder G, Spengler S. 2010. Silver-Russell syndrome: Genetic basis and molecular genetic testing. Orphanet J Rare Dis 5: 19.
6. Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J. 2008. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with intellectual disability. Am J Hum Genet 82: 432-443.
7. Katz EB, Stenbit AE, Hatton K, DePinho R, Charron MJ., 1995. Cardiac and adipose tissue abnormalities but not diabetes in mice deficient in GLUT4. Nature 1377: 151-155.
8. Komoike Y, Shimojima K, Liang JS, Fujii H, Maegaki Y, Osawa M, Fujii S, Higashinakagawa T, Yamamoto T. 2010. A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish. J Hum Genet 55: 155-162.
9. Kotzot D. 2008. Maternal uniparental disomy 7 and Silver-Russell syndrome: Clinical update and comparison with other subgroups. Eur J Med Genet 51: 444-451.
10. Koutelou E, Sato S, Tomomori-Sato C, Florens L, Swanson SK, Washburn MP, Kokkinaki M, Conaway RC, Conaway JW, Moschonas NK. 2008. Neuralized-like 1 (Neurl1) targeted to the plasma membrane by N-myristoylation regulates the Notch ligand Jagged 1. J Biol Chem 283: 3846-3853.
11. Krepischi-Santos AC, Rajan D, Temple IK, Shrubb V, Crolla JA, Huang S, Beal S, Otto PA, Carter NP, Vianna-Morgante AM, Rosenberg C. 2009. Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenet Genome Res 125: 1-7.
12. Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR. 2006. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic intellectual disability and multiple congenital anomalies: A new series of 140 patients and review of published reports. J Med Genet 43: 625-633.
13. Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. 1999. The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria. J Med Genet 36: 837-842.
14. Roos L, Jonch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brondum-Nielsen K, Kirchhoff M. 2009. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. J Med Genet 46: 703-710.
15. Schluth-Bolard C, Sanlaville D, Labalme A, Till M, Morin I, Touraine R, Edery P. 2010. 17p13.1 Microdeletion involving the TP53 gene in a boy presenting with intellectual disability but no tumor. Am J Med Genet Part A 152A: 1278-1282.
16. Schwarzbraun T, Oberauf A, Langmann A, Gruber-Sedlmayr U, Wagner K, Speicher M, Kroisel P. 2009. Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: New challenges through whole-genome array testing. J Med Genet 46: 341-344.
17. Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA. 2007. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum Genet 121: 697-709.
18. Wollmann HA, Kirchner T, Enders H, Preece MA, Ranke MB. 1995. Growth and symptoms in Silver-Russell syndrome: Review on the basis of 386 patients. Eur J Pediatr 154: 958-968.