Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

Genetics in Medicine

Volumn 5, Issue 6, 2003, Pages 430-434

  Potocki, Lorraine ^a   Shaw, Christine J ^a   Stankiewicz, Pawel ^a   Lupski, James R ^a  

^a TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Chromosome 17; Homologous recombination; Microdeletion; Smith Magenis syndrome

Indexed keywords

ADAPTATION; ADOLESCENT; ADULT; ARTICLE; CARDIOVASCULAR MALFORMATION; CHILD; CHROMOSOME 17P; CHROMOSOME 17P11.2; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CLINICAL EXAMINATION; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; CYTOGENETICS; EAR NOSE THROAT DISEASE; ECG ABNORMALITY; EYE DISEASE; FATHER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HEART DISEASE; HUMAN; INCIDENCE; KIDNEY MALFORMATION; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; MOTHER; PHENOTYPE; PULSED FIELD GEL ELECTROPHORESIS; SCOLIOSIS; SHORT STATURE; SLEEP DISORDER; SMITH MAGENIS SYNDROME; STATISTICAL SIGNIFICANCE; UROGENITAL TRACT MALFORMATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; CYTOGENETIC ANALYSIS; ELECTROPHORESIS, GEL, PULSED-FIELD; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MENTAL RETARDATION; PHENOTYPE; PROTEINS; SLEEP DISORDERS, INTRINSIC; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0344466705     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000095625.14160.AB     Document Type: Article

References (30)

1. Chen K-S, Potocki L, Lupski JR. The Smith-Magenis syndrome [del(17)p11.2]: Clinical review and molecular advances. Ment Retard Dev Disabil Res Rev 1996;2:122-129.
2. Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet 1996;62:247-254.
3. Greenberg F, Guzzetta V, Montes De Oca-Luna R, Magenis RE, Smith AC, Richter SF et al. Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 1991;49:1207-1218.
4. Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F et al. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet 1996;58:998-1007.
5. Chen K-S, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC et al. 3 Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 1997;17:154-163.
6. Shaw CJ, Bi W, Lupski JR. Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet 2002;71:1072-1081.
7. Trask BJ, Mefford H, Van Den Engh G, Massa HF, Juyal RC, Potocki L et al. Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum Genet 1996;98:710-718.
8. Bi W, Yan J, Stankiewicz P, Park S-S, Waltz K, Boerkoel CF et al. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res 2002;12:713-728.
9. Vlangos CN, Yim DK, Elsea SH. Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions: Are all deletions created equally? Mol Genet Metab 2003;79:134-141.
10. Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M et al. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet 2003;72:1101-1116.
11. Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SE. Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet 2003;33:466-468.
12. Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z et al. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet 2001;109:535-541.
13. Chen K-S, Gunaratne PH, Hoheisel JD, Young IG, Miklos GL, Greenberg F et al. The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am J Hum Genet 1995;56:175-182.
14. Zhao Q, Chen K-S, Bejjani BA, Lupski JR. Cloning, genomic structure, and expression of mouse ring finger protein gene. Znf179. Genomics 1998;49:394-400.
15. Shaffer LG, Kennedy GM, Spikes AS, Lupski JR. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory. Am J Hum Genet 1997;69:325-331.
16. Lupski JR, and Garcia CA. Charcot-Marie-Tooth peripheral neuropathies and related disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2001:5759-5788.
17. Park JP, Moeschler JB, Davies WS, Patel PI, Mohandas TK. Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2. Am J Med Genet 1998;77:23-27.
18. Potocki L, Chen K-S, Park S-S, Osterholm DE, Withers MA, Kimonis V et al. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84-87.
19. Madduri NS, Turcich M, Lupski JR, Potocki L. Low adaptive behavior and cognitive functioning in patients with Smith-Magenis syndrome [del(17) (p11.2p11.2)]. Am J Hum Genet 2002;71(suppl):A109.
20. Potocki L, Glaze D, Tan D-X, Park S-S, Kashork CD, Shaffer LG et al. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet 2000;37:428-433.
21. Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J et al. Hypercholesterolemia in children with Smith-Magenis syndrome: Del (17)(p11.2p11.2). Genet Med 2002;4:118-125.
22. Schlesinger AE, Potocki L, Poznanski AK, Lupski JR. The hand in Smith-Magenis syndrome (deletion 17p11.2): Evaluation by metacarpophalangeal pattern profile analysis. Pediatr Radiol 2003;33:173-176.
23. Chen RM, Lupski JR, Greenberg F, Lewis RA. Ophthalmic manifestations of Smith-Magenis syndrome. Ophthalmology 1996;103:1084-1091.
24. Allanson JE, Greenberg F, Smith AC. The face of Smith-Magenis syndrome: A subjective and objective study. J Med Genet 1999;36:394-397.
25. Sweeney E, Peart I, Tofeig M, Kerr B. Smith-Magenis syndrome and tetralogy of Fallot. J Med Genet 1999;36:501-502.
26. Thomas DG, Jacques SM, Flore LA, Feldman B, Evans MI, Qureshi F. Prenatal diagnosis of Smith-Magenis syndrome (del 17p11.2). Fetal Diagn Ther 2000;15:335-337.
27. Finucane B, Dirrigl KH, Simon EW. Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome. Am J Ment Retard 2001;106:52-58.
28. Dykens EM, Smith AC. Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome. J Intellect Disabil Res 1998;42 (Pt 6):481-489.
29. De Leersnyder H, De Blois MC, Claustrat B, Romana S, Albrecht U, Von Kleist-Retzow JC et al. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr 2001;139:111-116.
30. Kleinjan DJ, van Heyningen V. Position effect in human genetic disease. Hum Mol Genet 1998;7:1611-1618.