Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic

Genetics in Medicine

Volumn 15, Issue 3, 2013, Pages 172-173

  Riccardi, Vincent M ^a   Lupski, James R ^b  

^a Neurofibromatosis Institute   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROFIBROMIN;

CHROMOSOME 21; CLINICAL FEATURE; COPY NUMBER VARIATION; CYTOLOGY; DISEASE SEVERITY; DOWN SYNDROME; ENAMEL HYPOPLASIA; GENE DELETION; GENE DUPLICATION; GENE FUNCTION; GENE SEQUENCE; GENETIC ALGORITHM; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; GROWTH RETARDATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; MITOSIS; NEUROFIBROMATOSIS; NEUROPATHY; NOTE; PATHOGENESIS; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE;

CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GENE DUPLICATION; HUMANS; MALE; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1;

EID: 84875130552     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.124     Document Type: Note

References (11)

1. Kayes LM, Riccardi VM, Burke W, Bennett RL, Stephens K. Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism. J Med Genet 1992;29:686-690.
2. Upadhyaya M, Cheryson A, Broadhead W, et al. A 90 kb DNA deletion associated with neurofibromatosis type 1. J Med Genet 1990;27:738-741.
3. Kehrer-Sawatzki H, Vogt J, Mußotter T, Kluwe L, Cooper DN, Mautner VF. Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions. Neurogenetics 2012;13:229-236.
4. Mautner VF, Kluwe L, Friedrich RE, et al. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet 2010;47:623-630.
5. Messiaen L, Vogt J, Bengesser K, et al. Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat 2011;32:213-219.
6. 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.
7. Moles KJ, Gowans GC, Gedela S, et al. NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. Genet Med 2012;14:508-514.
8. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.
9. Lupski JR, Pentao L, Williams LL, Patel PI. Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. Am J Med Genet 1993;45: 92-96.
10. Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA. Clan genomics and the complex architecture of human disease. Cell 2011;147:32-43.
11. Riccardi, VM. Does defective neurofibromin alone explain NF1 pathogenesis? J Jap Soc Recklinghausen Dis (2012) (in press).