NF1 microduplications: Identification of seven nonrelated individuals provides further characterization of the phenotype

Genetics in Medicine

Volumn 14, Issue 5, 2012, Pages 508-514

  Moles, Kimberly J ^a   Gowans, Gordon C ^b   Gedela, Satyanarayana ^c   Beversdorf, David ^d,e   Yu, Arthur ^f   Seaver, Laurie H ^f,g   Schultz, Roger A ^a   Rosenfeld, Jill A ^a   Torchia, Beth S ^a   Shaffer, Lisa G ^a  

^a PERKINELMER INC   (United States)

^b University of Louisville School of Medicine   (United States)

^c CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^d University of Missouri   (United States)

^e UNIVERSITY OF MISSOURI   (United States)

^f Kapiolani Medical Specialists   (United States)

^g UNIVERSITY OF HAWAII   (United States)

Author keywords

17q11.2; developmental delay intellectual disability (DD ID); microduplication; neurofibromatosis 1 (NF1); nonallelic homologous recombination (NAHR)

Indexed keywords

NEUROFIBROMIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; FACE DYSMORPHIA; FEMALE; GENE DUPLICATION; GENETIC IDENTIFICATION; GENETIC SCREENING; HUMAN; MALE; NEUROFIBROMATOSIS; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SEIZURE;

EID: 84861882732     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2011.46     Document Type: Article

References (44)

1. Ars E, Kruyer H, Morell M, et al. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet 2003;40:e82.
2. Valero MC, Martín Y, Hernández-Imaz E, et al. A highly sensitive genetic protocol to detect NF1 mutations. J Mol Diagn 2011;13:113-122.
3. Lammert M, Friedman JM, Kluwe L, Mautner VF. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 2005;141:71-74. (Pubitemid 40144442)
4. Kluwe L, Siebert R, Gesk S, et al. Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 2004;23:111-116. (Pubitemid 38200601)
5. Trovó-Marqui AB, Tajara EH. Neurofibromin: a general outlook. Clin Genet 2006;70:1-13. (Pubitemid 44192729)
6. Pasmant E, Sabbagh A, Spurlock G, et al.; members of the NF France Network. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat 2010;31:E1506-E1518.
7. Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet 2000;9:35-46. (Pubitemid 30145286)
8. López Correa C, Brems H, Lázaro C, Marynen P, Legius E. Unequal meiotic crossover: a frequent cause of NF1 microdeletions. Am J Hum Genet 2000;66:1969-1974. (Pubitemid 30480104)
9. Jenne DE, Tinschert S, Reimann H, et al. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet 2001;69:516-527. (Pubitemid 32777691)
10. López-Correa C, Dorschner M, Brems H, et al. Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet 2001;10:1387-1392. (Pubitemid 32640667)
11. Bengesser K, Cooper DN, Steinmann K, et al. A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. Hum Mutat 2010;31:742-751.
12. Roehl AC, Vogt J, Mussotter T, et al. Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Hum Mutat 2010;31:1163-1173.
13. Kehrer-Sawatzki H, Kluwe L, Sandig C, et al. High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet 2004;75:410-423. (Pubitemid 39095817)
14. Petek E, Jenne DE, Smolle J, et al. Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations. J Med Genet 2003;40:520-525. (Pubitemid 36843075)
15. Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998;14:417-422. (Pubitemid 28505586)
16. Willatt L, Cox J, Barber J, et al. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet 2005;77:154-160. (Pubitemid 40848047)
17. Ballif BC, Theisen A, Coppinger J, et al. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 2008;1:8.
18. Somerville MJ, Mervis CB, Young EJ, et al. Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med 2005;353:1694-1701. (Pubitemid 41464708)
19. Berg JS, Brunetti-Pierri N, Peters SU, et al. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med 2007;9: 427-441. (Pubitemid 47222135)
20. Potocki L, Bi W, Treadwell-Deering D, et al. Characterization of Potocki- Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosagesensitive critical interval that can convey an autism phenotype. Am J Hum Genet 2007;80:633-649. (Pubitemid 46564401)
21. Potocki L, Chen KS, Park SS, et al. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84-87. (Pubitemid 30041427)
22. Grisart B, Rack K, Vidrequin S, et al. NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? Eur J Hum Genet 2008;16:305-311. (Pubitemid 351292230)
23. Lu X, Shaw CA, Patel A, et al. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE 2007;2:e327.
24. Bejjani BA, Saleki R, Ballif BC, et al. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A 2005;134:259-267. (Pubitemid 40470618)
25. Duker AL, Ballif BC, Bawle EV, et al. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet 2010;18:1196-1201.
26. Traylor RN, Fan Z, Hudson B, et al. Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report. Mol Cytogenet 2009;2:17.
27. de Kovel CG, Trucks H, Helbig I, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010;133(Pt 1):23-32.
28. Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, et al. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Eur J Med Genet 2009;52:108-115.
29. Mefford HC, Cooper GM, Zerr T, et al. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res 2009;19:1579-1585.
30. von der Lippe C, Rustad C, Heimdal K, Rødningen OK. 15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems. Eur J Med Genet 2011;54:357-360.
31. Stefansson H, Rujescu D, Cichon S, et al.; GROUP. Large recurrent microdeletions associated with schizophrenia. Nature 2008;455:232-236.
32. Shaikh TH, Gai X, Perin JC, et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009;19:1682-1690.
33. Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43:838-846.
34. Brunetti-Pierri N, Berg JS, Scaglia F, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 2008;40: 1466-1471.
35. Mefford HC, Sharp AJ, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008;359:1685-1699.
36. Rosenfeld JA, Coppinger J, Bejjani BA, et al. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord 2010;2:26-38.
37. Douglas J, Cilliers D, Coleman K, et al.; Childhood Overgrowth Collaboration. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nat Genet 2007;39:963-965. (Pubitemid 47185181)
38. Gervasini C, Mottadelli F, Ciccone R, et al. High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis. Eur J Hum Genet 2010;18:768-775.
39. Squazzo SL, O'Geen H, Komashko VM, et al. Suz12 binds to silenced regions of the genome in a cell-type-specific manner. Genome Res 2006;16:890-900. (Pubitemid 43992913)
40. Huang JK, Phillips GR, Roth AD, et al. Glial membranes at the node of Ranvier prevent neurite outgrowth. Science 2005;310: 1813-1817. (Pubitemid 41814381)
41. Girirajan S, Rosenfeld JA, Cooper GM, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010;42:203-209.
42. Girirajan S, Eichler EE. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 2010;19(R2):R176-R187.
43. Turner DJ, Miretti M, Rajan D, et al. Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet 2008;40:90-95.
44. Shchelochkov OA, Cheung SW, Lupski JR. Genomic and clinical characteristics of microduplications in chromosome 17. Am J Med Genet A 2010;152A:1101-1110.