Definition of the critical interval for Smith-Magenis syndrome

Cytogenetics and Cell Genetics

Volumn 79, Issue 3-4, 1997, Pages 276-281

  Elsea, S H ^a   Purandare, S M ^a   Adell, R A ^a   Juyal, R C ^a,e   Davis, J G ^b   Finucane, B ^c   Magenis, R E ^d   Patel, P I ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b WEILL CORNELL MEDICAL CENTER   (United States)

^c Elwyn   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e NATIONAL INSTITUTE OF IMMUNOLOGY   (India)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ARTICLE; CHROMOSOME 17P; CHROMOSOME DELETION; CONTROLLED STUDY; DNA SEQUENCE; GENOTYPE; HUMAN; HUMAN CELL; HYBRID CELL; MALE; MARKER GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SMITH MAGENIS SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; GENETIC MARKERS; HUMANS; HYBRID CELLS; SYNDROME;

EID: 0031429540     PISSN: 03010171     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000134742     Document Type: Article

References (30)

1. Chen KS, Gunaralne PH, Hoheisel JD, Young IG, Miklos GL, Greenberg F, ShalTcr LG, Campbell HD, Lupski JR: The human homologuc of the Drosophila melanogaster Flight less-1 gene (FLIII) maps within the Smith-Magenis microdelction critical region in 17pl 1,2. Am J hum Genet 56:175-182(1995).
2. Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault CA, Lee CC, Lupski JR: Homologous recombination of a flanking repeal gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nature Genet 17:154-163(1997).
3. Chen KS, Potocki L, Lupski JR: The Smith-Magenis syndrome [del(17)pl 1,2]: Clinical review and molecular advances. Menial Retard Dev Disabil Res Rev 2:122-129(1996).
4. Chevillard C, Le Paslicr D, Passage E, Ougen P, Billault A, Boyer S, Mazan S, Bachellerie JP, Vignal A, Cohen D, Fontes M: Relationship between Char-cot-Marie-Tooth IA and Smith-Magenis regions, snU3 may be a candidate gene fortheSmith-Magc-nis syndrome. Hum Mol Genet 2:1235-1243 (1993).
5. De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB: Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nature Genet 12:52-57(1996).
6. Dykens EM, Finucane BM, Gaylcy C: Brief report: Cognitive and behavioral profiles in persons with Smith-Magenis svndrome. J Aut Dev Disorder 27:203-211 (1997).
7. Elsea SH, Fritz E, Schoener-Scotl R, Meyn MS, Patel PI: The gene for topoisomerase 111 maps within the Smith-Magenis syndrome critical region: analysis of cell cycle distribution and radiation sensitivity. Am J med Genet 75:104-108 (1998).
8. Fain PR, Barker DF, Goldgar DF, Wright E, Nguyen K, Carey J, Johnson J, Kivlin J, Willard H, Mathew D, Ponder B, Skolnick M: Genetic analysis of NFI: identification of close Hanking markers on chromosome 17. Genomics 1:340-345 (1987).
9. Finucane BM, Kurtz MB, Babu VR, Scott C' Jr: Mosaicism for deletion 17p 11,2 in a boy with the Smith-Magenis svndrome. Am J med Genet 45:447-449 (1993).
10. Finucane BM, Konar D, Haas-Givler B, Kurtz MB, Scott CL: The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome. Dev Med Child Neurol 36:70-83 (1994).
11. Greenberg F, Guzzetta V, Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR: Molecular analysis of the Smith-Magenis syndrome: a possible contiguous gene syndrome associated with del(17Xpl 1,2). Am J hum Genet 49:1207-1218 (1991).
12. Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR: Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17pl 1,2). Am J med Genet 62:247-254 (1996).
13. Guzzetta V, Franco B, Trask BJ, Zhang H, Sauccdo-Cardcnas O, Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel PI: Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal I7p. Genomics 13:551-559 (1992).
14. Hiraoka IR, Hsu L, Hsich C-L: Assignment of ALDH3 to human chromosome 17p 11,2 and ALDH5 to human chromosome 9p 13. Genomics 25:323-325 (1995).
15. Ijdo JW, Lindsay EA, Wells RA, Baldini A: Multiple variants in subtclomcrie regions of normal karyotypes. Genomics 14:1019-1025 (1992).
16. Juval RC, Figucra LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI: Molecular analyses of 17pl 1,2 deletions in 62 Smilh-Magenis syndrome patients. Am J hum Genet 58:998-1007 (1996).
17. Juyal RC, Finucane B, Shaffer LG, Lupski JR, Greenberg F, Scott CL, Baldini A, Patel PI: Apparent mosaicism for del(17)(pl 1,2) ruled out by fluorescence in sittt hybridization in a Smith-Magenis syndrome patient. Am J med Genet 59:406-407 (1995a).
18. Juyal RC, Greenberg F, Mcngden GA, Lupski JR, Trask BJ, van den Engh G, Lindsay EA, Christy H, Chen K-S, Baldini A, ShalTcr LG, Patel PI: Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. Am J med Genet 58:286-291 (1995b).
19. Juyal RC, Kuwano A, Kondo I, Zara E, Baldini A, Patel PI: Mosaicism for dcl(17)(pll,2pl 1,2) underlying the Smith-Magenis syndrome. Am J med Genet 66:193-196(1996).
20. Kallioniemi OP, Kallioniemi A, Mascio I, Sudar D, Pinkcl D, Deaven L, Gray J: Physical mapping of chromosome 17 cosmids by fluorescence in situ hybridization and digital analysis. Genomics 20:125-128(1994).
21. Koyama K, Fukushima Y, Inazawa J, Tomotsunc D, Takahashi N, Nakamura Y: The human homolo-gue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17pl 1,2. Cytogenet Cell Genet 72:78-82 (1996).
22. Lee CC, Yazdani A, Wehnert M, Zhao Z, Lindsay E, Bailey J, Coolbaugh ML Couch L, Xiong M, Chinault AC, Baldini A, Caskey CT: Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosntid libraries. Hum molcc Genet 4:1373-1380 (1995a).
23. Lee JD, Ulevitch RI, Han J: Primary structure of BMKI: a new mammalian map kinase. Biochcm biophys RcsCommun 213:715-724(1995b).
24. Patel PL Franco B, Garcia C, Slaugenhaupt SA, Nakamura Y, Ledbetter DH, Chakravarti A, Lupski JR: Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J hum Genet 46:801-809 (1990).
25. Patel PI, Roa BB, Welcher AA, Schoener-Seott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Franckc U, Shooter EM, Lupski JR, Suter U: The gene lor the peripheral myelin protein PMP-22 is a candidate for Charcol-Maric-Tooth disease type IA. Nature Genet 1:159-165(1992).
26. Sehmickcl RD: Contiguous gene syndromes: a component of recognizable syndromes. J Pediat 109:231 - 241 (1986).
27. Smith ACM, McGavran L, Robinson J, Waldstein G, MacFarlane J, Zonona J, Reiss J, Lalir M, Allen L, Magenis E: Interstitial deletion of (17)(pll,2pl 1,2) in nine patients. Am J med Genet 24:393-414 (1986).
28. Trask BJ, Mcfford H, van den Engh G, Massa HE, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, Magenis E, Baldini A, Greenberg F, Lupski JR, Patel PI: Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum Genet 98:710-718 (1996).
29. Wright EC, Goldgar DE, Fain PR, Barker DF, Skolnick MH: A genetic map of human chromosome I7p. Genomics 7:103-109 (1990).
30. Zhao Z, Lee CC, Jiralerspong S, Juyal RC, Baldini A, Greenberg F, Caskcv CT, Patel PI: The gene for a human microfibril-associatcd glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum mol Genet 4:589-597 (1995)