Angelman syndrome caused by an identical familial 1,487-kb deletion [6]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 1, 2007, Pages 98-101

  Sato, Kanako ^a   Iwakoshi, Mie ^b   Shimokawa, Osamu ^c,d   Sakai, Haruya ^a   Ohta, Tohru ^e   Saitoh, Shinji ^f   Miyake, Noriko ^d   Niikawa, Norio ^d   Harada, Naoki ^c   Saitsu, Hirotomo ^a   Mizuguchi, Takeshi ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Nishinomiya Municipal Wakaba en   (Japan)

^c Kyushu Medical Science Nagasaki Laboratory   (Japan)

^d NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^e HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

^f HOKKAIDO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA; CASE REPORT; CHROMOSOME 15Q; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EPILEPSY; FACIES; FEMALE; GENE DELETION; GENETIC ANALYSIS; GENETIC AND FAMILIAL DISORDERS; GENETIC DISORDER; HAPPY PUPPET SYNDROME; HUMAN; LETTER; LINKAGE ANALYSIS; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SEQUENCE ANALYSIS; UNIPARENTAL DISOMY;

ADULT; ANGELMAN SYNDROME; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PEDIGREE; PHENOTYPE;

EID: 33846008782     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31550     Document Type: Letter

References (18)

1. Boehm D, Herold S, Kuechler A, Liehr T, Laccone F. 2004. Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye. Hum Mutat 23:368-378.
2. Burger J, Horn D, Tonnies H, Neitzel H, Reis A. 2002. Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. Am J Med Genet 111:233-237.
3. Buxton JL, Chan CT, Gilbert H, Clayton-Smith J, Burn J, Pembrey M, Malcolm S. 1994. Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb. Hum Mol Genet 3:1409-1413.
4. Cavaille J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Huttenhofer A. 2000. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc Natl Acad Sci USA 97:14311-14316.
5. Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH. 1999. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Genet 8:1025-1037.
6. Clayton-Smith J, Laan L. 2003. Angelman syndrome: A review of the clinical and genetic aspects. J Med Genet 40:87-95.
7. Fung DC, Yu B, Cheong KF, Smith A, Trent RJ. 1998. UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients. Hum Genet 102: 487-492.
8. Gallagher RC, Pils B, Albalwi M, Francke U. 2002. Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. Am J Hum Genet 71:669-678.
9. Greger V, Woolf E, Lalande M. 1993. Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient. Hum Mol Genet 2:921-924.
10. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F. 1993. Prader-Willi syndrome: Consensus diagnostic criteria. Pediatrics 91:398-402.
11. Kishore S, Stamm S. 2006. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311:230-232.
12. Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. 1997. Methylation-specific PCR simplifies imprinting analysis. Nat Genet 16:16-17.
13. Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. 2006. BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet Part A 140A:205-211.
14. Runte M, Varon R, Horn D, Horsthemke B, Buiting K. 2005. Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum Genet 116:228-230.
15. Saitoh S, Kubota T, Ohta T, Jinno Y, Niikawa N, Sugimoto T, Wagstaff J, Lalande M. 1992. Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. Lancet 339:366-367.
16. Sugimoto T, Yasuhara A, Ohta T, Nishida N, Saitoh S, Hamabe J, Niikawa N. 1992. Angelman syndrome in three siblings: Characteristic epileptic seizures and EEG abnormalities. Epilepsia 33:1078-1082.
17. Sutcliffe JS, Jiang YH, Galijaard RJ, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL. 1997. The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Res 7:368-377.
18. Wirth J, Back E, Huttenhofer A, Nothwang HG, Lieh C, Gross S, Menzel C, Schinzel A, Kioschis P, Tommerup N, Ropers HH, Horsthemke B, Buiting K. 2001. A translocation breakpoint cluster disrupts the newly defined 3′ end of the SNURF-SNRPN transcription unit on chromosome 15. Hum Mol Genet 10: 201-210.